commit df4bbec30a36ad0ab0af6d3588a36df3686578ff
Author: davidlagorce <david.lagorce@inserm.fr>
Date: Sun Oct 3 10:11:04 2021 +0200
OCT 2021
diff --git for nl_product1.xml between September 2021 and October 2021
old mode 100755
new mode 100644
index 1710427..d259d74
a/​Rareb/​Rare
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5 ······​<FullName·​lang="en">Creative·​Commons·​Attribution·​4.​0·​International</​FullName>5 ······​<FullName·​lang="en">Creative·​Commons·​Attribution·​4.​0·​International</​FullName>
7 ······​<LegalCode>https:​/​/​creativecommons.​org/​licenses/​by/​4.​0/​legalcode</​LegalCode>7 ······​<LegalCode>https:​/​/​creativecommons.​org/​licenses/​by/​4.​0/​legalcode</​LegalCode>
8 ····​</​Licence>8 ····​</​Licence>
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73 ··············​<TextSectionType·​id="16907">73 ··············​<TextSectionType·​id="16907">
74 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>74 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
75 ··············​</​TextSectionType>75 ··············​</​TextSectionType>
76 ··············​<Contents>Multipele·​epifysaire·​dysplasie,​·Al-​Gazali-​type·is·een·skeletale·​dysplasie·gekenmerkt·door·multipele·​epifysaire·dysplasie·(zie·deze·​term)​,​·macrocefalie·​en·faciale·dysmorfie.​</​Contents>76 ··············​<Contents>Een·zeldzame·primaire·botdysplasie,​·gekarakteriseerd·door·de·associatie·van·multipele·​epifysaire·​dysplasie·met·macrocefalie·en·dysmorfe·gelaatskenmerken·(zoals·boller·voorhoofd,​·hypertelorisme,​·platte·jukbeenderen,​·laagstaande·oren,​·en·korte·hals)​.​·Patiënten·hebben·een·normale·gestalte·en·presenteren·zich·met·gezwollen·gewrichten·en·genu·valgum·(X-​benen)​.​·Bijkomende·manifestaties·die·worden·gerapporteerd,​·zijn·onder·meer·clinodactylie,​·spoelvormige·vingers,​·en·pectus·excavatum.​</​Contents>
77 ············​</​TextSection>77 ············​</​TextSection>
78 ··········​</​TextSectionList>78 ··········​</​TextSectionList>
79 ········​</​SummaryInformation>79 ········​</​SummaryInformation>
1298 ······​</​ExternalReferenceList​>1298 ······​</​ExternalReferenceList​>
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1306 ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.​·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.​</​Info>
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5090 ······​<Name·​lang="nl">Goedaardige​·​partiële·​epilepsie·​met·​secundair·​gegeneraliseerde·​insulten·in·de·​zuigelingentijd</​Name>5083 ······​<Name·​lang="nl">Goedaardige​·​partiële·​epilepsie·​met·​secundair·​gegeneraliseerde·​insulten·op·​zuigelingenleeftijd</​Name>
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5137 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=166299</​ExpertLink>5130 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=166299</​ExpertLink>
5138 ······​<Name·​lang="nl">Goedaardige​·​partiële·​epilepsie·​met·​complexe·​partiële·​insulten·in·de·​zuigelingentijd</​Name>5131 ······​<Name·​lang="nl">Goedaardige​·​partiële·​epilepsie·​met·​complexe·​partiële·​insulten·op·​zuigelingenleeftijd</​Name>
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5715 ··········<TextSectionList·count="0">
5716 ··········</​TextSectionList>
5717 ··········<TextAuto>
5718 ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.​·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.​</​Info>
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5720 ········</​SummaryInformation>
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5722 ····​</​Disorder>5708 ····​</​Disorder>
5723 ····​<Disorder·​id="17642">5709 ····​<Disorder·​id="17642">
6000 ··········​<Label></​Label>5986 ··········​<Label></​Label>
6001 ········​</​DisorderFlag>5987 ········​</​DisorderFlag>
6002 ······​</​DisorderFlagList>5988 ······​</​DisorderFlagList>
6003 ······​<SynonymList·​count="0">5989 ······​<SynonymList·​count="1">
5990 ········​<Synonym·​lang="nl">Reflexepile​psie·​door·​contact·​met·​heet·​water</​Synonym>
6004 ······​</​SynonymList>5991 ······​</​SynonymList>
6005 ······​<DisorderType·​id="21394">5992 ······​<DisorderType·​id="21394">
6006 ········​<Name·​lang="nl">Ziekte</​Name>5993 ········​<Name·​lang="nl">Ziekte</​Name>
6371 ··········​<Label></​Label>6358 ··········​<Label></​Label>
6372 ········​</​DisorderFlag>6359 ········​</​DisorderFlag>
6373 ······​</​DisorderFlagList>6360 ······​</​DisorderFlagList>
6374 ······​<SynonymList·​count="0">6361 ······​<SynonymList·​count="1">
6362 ········​<Synonym·​lang="nl">Epilepsie·​door·​schrikken</​Synonym>
6375 ······​</​SynonymList>6363 ······​</​SynonymList>
6376 ······​<DisorderType·​id="21394">6364 ······​<DisorderType·​id="21394">
6377 ········​<Name·​lang="nl">Ziekte</​Name>6365 ········​<Name·​lang="nl">Ziekte</​Name>
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11078 ··········<TextSectionList·count="0">
11079 ··········</​TextSectionList>
11080 ··········<TextAuto>
11081 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
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11204 ······​<Name·​lang="nl">Familiaal·​geavanceerde·​slaapfasesyndroom</​Name>11185 ······​<Name·​lang="nl">Familiaal·​geavanceerde·​slaapfase-​syndroom</​Name>
11205 ······​<DisorderFlagList·​count="1">11186 ······​<DisorderFlagList·​count="1">
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12999 ······​<DisorderDisorderAsso​ciationList·​count="0">12980 ······​<DisorderDisorderAsso​ciationList·​count="0">
13000 ······​</​DisorderDisorderAssoc​iationList>12981 ······​</​DisorderDisorderAssoc​iationList>
13001 ······​<SummaryInformationLi​st·​count="0">12982 ······​<SummaryInformationLi​st·​count="1">
12983 ········​<SummaryInformation·​id="128983"·​lang="nl">
12984 ··········​<TextSectionList·​count="1">
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12986 ··············​<TextSectionType·​id="16907">
12987 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
12988 ··············​</​TextSectionType>
12989 ··············​<Contents>Een·​zeldzame·​primaire·​botdysplasie,​·​gekarakteriseerd·​door·​de·​associatie·​van·​multipele·​epifysaire·​dysplasie,​·​verlies·​van·​gezichtsvermogen·​(met·​vroeg·​optredende·​progressieve·​myopie,​·​verdunning·​van·​het·​netvlies,​·​en·​cataract)​,​·​en·​conductief·​gehoorverlies.​·​Patiënten·​hebben·​een·​kleine·​gestalte·​en·​vertonen·​brachydactylie,​·​genu·​valgum,​·​en·​gewrichtspijn.​</​Contents>
12990 ············​</​TextSection>
12991 ··········​</​TextSectionList>
12992 ········​</​SummaryInformation>
13002 ······​</​SummaryInformationLis​t>12993 ······​</​SummaryInformationLis​t>
13003 ····​</​Disorder>12994 ····​</​Disorder>
13004 ····​<Disorder·​id="126">12995 ····​<Disorder·​id="126">
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13006 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=567</​ExpertLink>12997 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=567</​ExpertLink>
13007 ······​<Name·​lang="nl">22q11.​2·deletiesyndroom</​Name>12998 ······​<Name·​lang="nl">22q11.​2-​deletiesyndroom</​Name>
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13014 ······​<SynonymList·​count="13">13005 ······​<SynonymList·​count="13">
13015 ········​<Synonym·​lang="nl">22q11DS</​Synonym>13006 ········​<Synonym·​lang="nl">22q11DS</​Synonym>
13016 ········​<Synonym·​lang="nl">CATCH·​22</​Synonym>13007 ········​<Synonym·​lang="nl">CATCH·​22</​Synonym>
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13018 ········​<Synonym·​lang="nl">Conotruncal​e·​en·​aangezichtsanomalie-​syndroom</​Synonym>13009 ········​<Synonym·​lang="nl">Conotruncal​e·​en·​aangezichtsanomalie-​syndroom</​Synonym>
13019 ········​<Synonym·​lang="nl">DiGeorge-​sequentie</​Synonym>13010 ········​<Synonym·​lang="nl">DiGeorge-​sequentie</​Synonym>
13020 ········​<Synonym·​lang="nl">Microdeleti​e·​22q11.​2</​Synonym>13011 ········​<Synonym·​lang="nl">Microdeleti​e·​22q11.​2</​Synonym>
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13402 ······​<Name·​lang="nl">Resistentie​·​van·de·​hypofyse·​tegen·​schildklierhormoon</​Name>13393 ······​<Name·​lang="nl">Resistentie​·​van·​hypofyse·​tegen·​schildklierhormoon</​Name>
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13418 ········​<Synonym·​lang="nl">PRTH</​Synonym>13409 ········​<Synonym·​lang="nl">PRTH</​Synonym>
13419 ········​<Synonym·​lang="nl">Selectieve·​resistentie·​van·de·​hypofyse·​tegen·​schildklierhormoon</​Synonym>13410 ········​<Synonym·​lang="nl">Selectieve·​resistentie·​van·​hypofyse·​tegen·​schildklierhormoon</​Synonym>
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13421 ······​<DisorderType·​id="21394">13412 ······​<DisorderType·​id="21394">
13422 ········​<Name·​lang="nl">Ziekte</​Name>13413 ········​<Name·​lang="nl">Ziekte</​Name>
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18324 ······​<OrphaCode>163631</​OrphaCode>18315 ······​<OrphaCode>163631</​OrphaCode>
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18326 ······​<Name·​lang="nl">Galzuursynt​hesedefect·​met·​cholestase·​en·​malabsorptie</​Name>18317 ······​<Name·​lang="nl">Defect·van·galzuursynthese·​met·​cholestase·​en·​malabsorptie</​Name>
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18848 ······​<Name·​lang="nl">Febriele·​infectiegerelateerde·​epilepsie-​syndroom</​Name>18839 ······​<Name·​lang="nl">Febriele·​infectie-​gerelateerde·​epilepsie-​syndroom</​Name>
18849 ······​<DisorderFlagList·​count="1">18840 ······​<DisorderFlagList·​count="1">
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19830 ········​</​DisorderFlag>19821 ········​</​DisorderFlag>
19831 ······​</​DisorderFlagList>19822 ······​</​DisorderFlagList>
19832 ······​<SynonymList·​count="3">19823 ······​<SynonymList·​count="1">
19833 ········<Synonym·lang="nl">Bilaterale·akoestische·neurofibromatose</​Synonym>
19834 ········<Synonym·lang="nl">Centrale·neurofibromatose</​Synonym>
19835 ········​<Synonym·​lang="nl">NF2</​Synonym>19824 ········​<Synonym·​lang="nl">NF2</​Synonym>
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19979 ··········​<Label></​Label>19968 ··········​<Label></​Label>
19980 ········​</​DisorderFlag>19969 ········​</​DisorderFlag>
19981 ······​</​DisorderFlagList>19970 ······​</​DisorderFlagList>
19982 ······​<SynonymList·​count="4">19971 ······​<SynonymList·​count="5">
19983 ········​<Synonym·​lang="nl">AMRF</​Synonym>19972 ········​<Synonym·​lang="nl">AMRF</​Synonym>
19984 ········​<Synonym·​lang="nl">EPM4</​Synonym>19973 ········​<Synonym·​lang="nl">EPM4</​Synonym>
19985 ········​<Synonym·​lang="nl">Myoclonus·​-​·​nefropathie-​syndroom</​Synonym>19974 ········​<Synonym·​lang="nl">Myoclonus·​-​·​nefropathie-​syndroom</​Synonym>
19986 ········​<Synonym·​lang="nl">Progressiev​e·​myoclonische·​epilepsie·​type·​4</​Synonym>19975 ········​<Synonym·​lang="nl">Progressiev​e·​myoclonische·​epilepsie·​type·​4</​Synonym>
19976 ········​<Synonym·​lang="nl">Progressive​·​myoclonusepilepsie·​type·​4</​Synonym>
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19988 ······​<DisorderType·​id="21394">19978 ······​<DisorderType·​id="21394">
19989 ········​<Name·​lang="nl">Ziekte</​Name>19979 ········​<Name·​lang="nl">Ziekte</​Name>
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21826 ········​<DisorderDisorderAsso​ciation>
21827 ··········​<TargetDisorder·​id="220"·​cycle="true"/​>
21828 ··········​<RootDisorder·​id="22112">
21829 ············​<OrphaCode>352740</​OrphaCode>
21830 ············​<Name·​lang="nl">Oculair·​albinisme·​met·​congenitale·​sensorineurale·​doofheid</​Name>
21831 ··········​</​RootDisorder>
21832 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
21833 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>
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21835 ········​</​DisorderDisorderAssoc​iation>
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21838 ········​<SummaryInformation·​id="89132"·​lang="nl">21838 ········​<SummaryInformation·​id="89132"·​lang="nl">
24735 ······​</​DisorderFlagList>24735 ······​</​DisorderFlagList>
24736 ······​<SynonymList·​count="5">24736 ······​<SynonymList·​count="5">
24737 ········​<Synonym·​lang="nl">Bilirubine-​UGT-​deficiëntie</​Synonym>24737 ········​<Synonym·​lang="nl">Bilirubine-​UGT-​deficiëntie</​Synonym>
24738 ········​<Synonym·​lang="nl">Bilirubine-​uridinedifosfaat-​glucuronosyltransfera​sedeficiëntie</​Synonym>24738 ········​<Synonym·​lang="nl">Deficiëntie​·van·UDP-​glucuronosyltransfera​se</​Synonym>
24739 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​bilirubine-​uridinedifosfaat-​glucuronosyltransfera​se</​Synonym>
24739 ········​<Synonym·​lang="nl">Erfelijke·​ongeconjugeerde·​hyperbilirubinemie</​Synonym>24740 ········​<Synonym·​lang="nl">Erfelijke·​ongeconjugeerde·​hyperbilirubinemie</​Synonym>
24740 ········​<Synonym·​lang="nl">UDP-​glucuronosyltransfera​sedeficiëntie</​Synonym>
24741 ········​<Synonym·​lang="nl">UGT-​deficiëntie</​Synonym>24741 ········​<Synonym·​lang="nl">UGT-​deficiëntie</​Synonym>
24742 ······​</​SynonymList>24742 ······​</​SynonymList>
24743 ······​<DisorderType·​id="21394">24743 ······​<DisorderType·​id="21394">
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25269 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
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25273 ····​</​Disorder>25266 ····​</​Disorder>
25274 ····​<Disorder·​id="17874">25267 ····​<Disorder·​id="17874">
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25676 ··············​<Contents>De·​ziekte·van·Menkes·(MD)​·is·een·meestal·​ernstige,​·​multisystemische·aandoening·van·het·kopermetabolisme,​·​gekenmerkt·​door·​progressieve·​neurodegeneratie·​en·geprononceerde·​bindweefselafwijkinge​n·​en·​typisch·​schaarse,​·​abnormale·staalachtige·haren.​</​Contents>25669 ··············​<Contents>Een·​zeldzame·congenitale·aandoening·van·kopermetabolisme·met·​ernstige·​multisystemische·manifestaties·die·hoofdzakelijk·​gekenmerkt·worden·​door·​progressieve·​neurodegeneratie·​en·opvallende·anomalieën·van·​bindweefsel.​·Een·pathognomonisch·kenmerk·is·het·​typische·​schaarse,​·​abnormale·kroeshaar.​</​Contents>
25677 ············​</​TextSection>25670 ············​</​TextSection>
25678 ··········​</​TextSectionList>25671 ··········​</​TextSectionList>
25679 ········​</​SummaryInformation>25672 ········​</​SummaryInformation>
25968 ··········​<Label></​Label>25961 ··········​<Label></​Label>
25969 ········​</​DisorderFlag>25962 ········​</​DisorderFlag>
25970 ······​</​DisorderFlagList>25963 ······​</​DisorderFlagList>
25971 ······​<SynonymList·​count="0">25964 ······​<SynonymList·​count="1">
25965 ········​<Synonym·​lang="nl">Familiale·​HLH</​Synonym>
25972 ······​</​SynonymList>25966 ······​</​SynonymList>
25973 ······​<DisorderType·​id="21394">25967 ······​<DisorderType·​id="21394">
25974 ········​<Name·​lang="nl">Ziekte</​Name>25968 ········​<Name·​lang="nl">Ziekte</​Name>
29879 ··············​<TextSectionType·​id="16907">29873 ··············​<TextSectionType·​id="16907">
29880 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>29874 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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29882 ··············​<Contents>Syndroom·van·Treacher-​Collins·is·een·congenitale·stoornis·van·de·craniofaciale·ontwikkeling·die·​gekarakteriseerd·wordt·​door·​bilaterale·​symmetrische·​otomandibulaire·​dysplasie·zonder·afwijkingen·​aan·de·​ledematen,​·​en·die·geassocieerd·​is·​met·​ernstige·​defecten·aan·het·hoofd·en·de·​nek.​</​Contents>29876 ··············​<Contents>Een·zeldzame,​·​genetische·mandibulofaciale·dysostose,​·​gekarakteriseerd·​door·​bilaterale·​symmetrische·​otomandibulaire·​dysplasie·met·onder·meer·onderontwikkelde·jukbeenderen·(malaire·hypoplasie)​,​·een·zeer·kleine·onderkaak·(micrognathie)​·​en·schuin·naar·beneden·hellende·ooglidspleten,​·coloboom·van·onderste·oogleden,​·microtie,​·en·gehoorverlies,​·zonder·afwijkingen·van·de·ledematen.​·De·intelligentie·is·​normaal.​</​Contents>
29883 ············​</​TextSection>29877 ············​</​TextSection>
29884 ··········​</​TextSectionList>29878 ··········​</​TextSectionList>
29885 ········​</​SummaryInformation>29879 ········​</​SummaryInformation>
31736 ····​<Disorder·​id="17822">31730 ····​<Disorder·​id="17822">
31737 ······​<OrphaCode>169110</​OrphaCode>31731 ······​<OrphaCode>169110</​OrphaCode>
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31739 ······​<Name·​lang="nl">Immunoglobu​line·​zware·​ketendeficiëntie</​Name>31733 ······​<Name·​lang="nl">Deficiëntie​·van·​zware·​keten·van·immunoglobuline</​Name>
31740 ······​<DisorderFlagList·​count="1">31734 ······​<DisorderFlagList·​count="1">
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32137 ······​<OrphaCode>169082</​OrphaCode>32131 ······​<OrphaCode>169082</​OrphaCode>
32138 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=169082</​ExpertLink>32132 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=169082</​ExpertLink>
32139 ······​<Name·​lang="nl">Gecombineer​de·​immuundeficiëntie·​door·​CD3·gamma-​deficiëntie</​Name>32133 ······​<Name·​lang="nl">Gecombineer​de·​immuundeficiëntie·​door·​CD3-​gamma-​deficiëntie</​Name>
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33468 ······​<SummaryInformationLi​st·​count="0">33462 ······​<SummaryInformationLi​st·​count="1">
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33469 ··············​<Contents>Een·​zeldzame·​hematologische·​aandoening,​·​gekarakteriseerd·​door·​de·​aanwezigheid·​van·​20-​29%·​blastcellen·​in·​beenmerg,​·​de·​aanwezigheid·​van·​5-​29%·​blastcellen·​in·​perifeer·​bloed,​·​en/​of·​de·​aanwezigheid·​van·​Auer-​staafjes.​·​Patiënten·​vertonen·​weken-​·​of·​maandenlang·​relatief·​stabiele·​aantallen·​van·​bloedcellen·​in·​perifeer·​bloed,​·​en·​specifieke·​cytogenetische·​en·​moleculair·​genetische·​kenmerken·​die·​belangrijke·​prognostische·​factoren·​vormen.​</​Contents>
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33471 ··········​</​TextSectionList>
33472 ········​</​SummaryInformation>
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33470 ····​</​Disorder>33474 ····​</​Disorder>
33471 ····​<Disorder·​id="335">33475 ····​<Disorder·​id="335">
35585 ····​<Disorder·​id="17825">35589 ····​<Disorder·​id="17825">
35586 ······​<OrphaCode>169139</​OrphaCode>35590 ······​<OrphaCode>169139</​OrphaCode>
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35588 ······​<Name·​lang="nl">Voorbijgaan​de·​hypogammaglobulinemie​·bij·​zuigelingen</​Name>35592 ······​<Name·​lang="nl">Transiënte·​hypogammaglobulinemie​·op·​zuigelingenleeftijd</​Name>
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37413 ····​<Disorder·​id="415">37417 ····​<Disorder·​id="415">
37414 ······​<OrphaCode>1059</​OrphaCode>37418 ······​<OrphaCode>1059</​OrphaCode>
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37416 ······​<Name·​lang="nl">Blue-​rubber-​blebnevus</​Name>37420 ······​<Name·​lang="nl">'Blue·rubber·bleb'-​naevus</​Name>
37417 ······​<DisorderFlagList·​count="1">37421 ······​<DisorderFlagList·​count="1">
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38801 ······​<OrphaCode>168615</​OrphaCode>38805 ······​<OrphaCode>168615</​OrphaCode>
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38803 ······​<Name·​lang="nl">Erfelijke·​persistentie·​van·​alfa-​foetoproteïne</​Name>38807 ······​<Name·​lang="nl">Hereditaire​·​persistentie·​van·​alfa-​foetoproteïne</​Name>
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38852 ······​<Name·​lang="nl">Congenitale​·​deficiëntie·in·​alfa-​foetoproteïne</​Name>38856 ······​<Name·​lang="nl">Congenitale​·​deficiëntie·van·​alfa-​foetoproteïne</​Name>
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39639 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
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39643 ····​</​Disorder>39640 ····​</​Disorder>
39644 ····​<Disorder·​id="446">39641 ····​<Disorder·​id="446">
39767 ····​<Disorder·​id="17790">39764 ····​<Disorder·​id="17790">
39768 ······​<OrphaCode>168632</​OrphaCode>39765 ······​<OrphaCode>168632</​OrphaCode>
39769 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=168632</​ExpertLink>39766 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=168632</​ExpertLink>
39770 ······​<Name·​lang="nl">Gegeneralis​eerd·​basaloïd·​folliculair·​hamartoomsyndroom</​Name>39767 ······​<Name·​lang="nl">Gegeneralis​eerd·​basaloïd·​folliculair·​hamartoom-​syndroom</​Name>
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40735 ········​</​DisorderFlag>40732 ········​</​DisorderFlag>
40736 ······​</​DisorderFlagList>40733 ······​</​DisorderFlagList>
40737 ······​<SynonymList·​count="1">40734 ······​<SynonymList·​count="1">
40738 ········​<Synonym·​lang="nl">Akaba-​Hayasakasyndroom</​Synonym>40735 ········​<Synonym·​lang="nl">Syndroom·van·Akaba-​Hayasaka</​Synonym>
40739 ······​</​SynonymList>40736 ······​</​SynonymList>
40740 ······​<DisorderType·​id="21401">40737 ······​<DisorderType·​id="21401">
40741 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>40738 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
41464 ··········​<Label></​Label>41461 ··········​<Label></​Label>
41465 ········​</​DisorderFlag>41462 ········​</​DisorderFlag>
41466 ······​</​DisorderFlagList>41463 ······​</​DisorderFlagList>
41467 ······​<SynonymList·​count="5">41464 ······​<SynonymList·​count="6">
41468 ········​<Synonym·​lang="nl">Anemie·​van·​Diamond-​Blackfan</​Synonym>41465 ········​<Synonym·​lang="nl">Anemie·​van·​Diamond-​Blackfan</​Synonym>
41469 ········​<Synonym·​lang="nl">Congenitale​·​PRCA</​Synonym>41466 ········​<Synonym·​lang="nl">Congenitale​·​PRCA</​Synonym>
41470 ········​<Synonym·​lang="nl">Congenitale​·​zuivere·​rode·​cel·​aplasie</​Synonym>41467 ········​<Synonym·​lang="nl">Congenitale​·​zuivere·​rode·​cel·​aplasie</​Synonym>
41468 ········​<Synonym·​lang="nl">Diamond-​Blackfan·​anemie</​Synonym>
41471 ········​<Synonym·​lang="nl">Syndroom·​van·​Aase</​Synonym>41469 ········​<Synonym·​lang="nl">Syndroom·​van·​Aase</​Synonym>
41472 ········​<Synonym·​lang="nl">Syndroom·​van·​Aase-​Smith·​II</​Synonym>41470 ········​<Synonym·​lang="nl">Syndroom·​van·​Aase-​Smith·​II</​Synonym>
41473 ······​</​SynonymList>41471 ······​</​SynonymList>
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42964 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>42962 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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42966 ··············​<Contents>Digito-​talaire·dysmorfie,​·ook·wel·bekend·als·distale·arthrogryposis·type·1·(DA1)​,​·is·een·autosomaal·dominante·aangeboren·​afwijking·die·gekenmerkt·wordt·door·contracturen·van·de·distale·gebieden·van·​de·handen·en·voeten·zonder·betrokkenheid·​van·het·gezicht·of·​bijkomstige·afwijkingen.​·Het·is·de·meest·​voorkomende·vorm·van·distale·arthrogryposis·(zie·deze·term)​.​</​Contents>42964 ··············​<Contents>Een·vorm·van·artrogrypose,​·gekarakteriseerd·door·contracturen·van·distale·delen·van·handen·en·voeten·in·​afwezigheid·van·een·primaire·neurologische·en/​of·musculaire·aandoening·die·​de·functie·van·ledematen·aantast.​·Betrokkenheid·​van·aangezicht·blijft·​beperkt·tot·kleine·mond·en·moeite·met·het·openen·​van·de·mond.​·Er·werden·geen·bijkomende·anomalieën·gerapporteerd.​</​Contents>
42967 ············​</​TextSection>42965 ············​</​TextSection>
42968 ··········​</​TextSectionList>42966 ··········​</​TextSectionList>
42969 ········​</​SummaryInformation>42967 ········​</​SummaryInformation>
43532 ··············​<TextSectionType·​id="16907">43530 ··············​<TextSectionType·​id="16907">
43533 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>43531 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
43534 ··············​</​TextSectionType>43532 ··············​</​TextSectionType>
43535 ··············​<Contents>Post-​axiale·acrofaciale·dysostose·(POADS)​·is·een·type·​acrofaciale·​dysostose·(zie·deze·term)​·dat·​gekarakteriseerd·wordt·​door·​hypoplasie·​van·​de·kaak-​·​en·​jukbeenderen,​·​kleine·​en·​komvormige·​oren,​·​ectropion·​van·het·​onderste·​ooglid,​·​en·​symmetrische·​post-​axiale·afwijkingen·aan·de·​ledematen·​met·​afwezigheid·​van·​de·pink·​en·​hypoplasie·​van·de·​ulna·(ellepijp)​.​</​Contents>43533 ··············​<Contents>Een·zeldzame·​acrofaciale·​dysostose,​·​gekarakteriseerd·​door·​hypoplasie·​van·onderkaak·​en·​jukbeen,​·​kleine·​en·​komvormige·​oren,​·​ectropion·​van·​onderste·​ooglid,​·​en·​symmetrische·​postaxiale·deficiënties·van·​ledematen·​met·​afwezigheid·​van·​de·vijfde·stralen·​en·​hypoplasie·​van·​ulna.​</​Contents>
43536 ············​</​TextSection>43534 ············​</​TextSection>
43537 ··········​</​TextSectionList>43535 ··········​</​TextSectionList>
43538 ········​</​SummaryInformation>43536 ········​</​SummaryInformation>
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44510 ······​<DisorderDisorderAsso​ciationList·​count="0">44508 ······​<DisorderDisorderAsso​ciationList·​count="0">
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44521 ····​</​Disorder>44512 ····​</​Disorder>
44522 ····​<Disorder·​id="17682">44513 ····​<Disorder·​id="17682">
45060 ····​<Disorder·​id="461">45051 ····​<Disorder·​id="461">
45061 ······​<OrphaCode>147</​OrphaCode>45052 ······​<OrphaCode>147</​OrphaCode>
45062 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=147</​ExpertLink>45053 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=147</​ExpertLink>
45063 ······​<Name·​lang="nl">Carbamoylfo​sfaatsynthetase·​1-​deficiëntie</​Name>45054 ······​<Name·​lang="nl">Deficiëntie​·van·carbamoylfosfaatsynth​etase·​1</​Name>
45064 ······​<DisorderFlagList·​count="1">45055 ······​<DisorderFlagList·​count="1">
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45066 ··········​<Value>1</​Value>45057 ··········​<Value>1</​Value>
45071 ········​<Synonym·​lang="nl">CPS-​deficiëntie</​Synonym>45062 ········​<Synonym·​lang="nl">CPS-​deficiëntie</​Synonym>
45072 ········​<Synonym·​lang="nl">CPS1-​deficiëntie</​Synonym>45063 ········​<Synonym·​lang="nl">CPS1-​deficiëntie</​Synonym>
45073 ········​<Synonym·​lang="nl">CPS1D</​Synonym>45064 ········​<Synonym·​lang="nl">CPS1D</​Synonym>
45074 ········​<Synonym·​lang="nl">Carbamoylfo​sfaatsynthasedeficiën​tie</​Synonym>45065 ········​<Synonym·​lang="nl">Deficiëntie​·van·carbamoylfosfaatsynth​ase</​Synonym>
45075 ········​<Synonym·​lang="nl">Carbamoylfo​sfaatsynthetase·I-​deficiëntie</​Synonym>45066 ········​<Synonym·​lang="nl">Deficiëntie​·van·carbamoylfosfaatsynth​etase</​Synonym>
45076 ········​<Synonym·​lang="nl">Carbamoylfo​sfaatsynthetasedefici​ëntie</​Synonym>45067 ········​<Synonym·​lang="nl">Deficiëntie​·van·carbamoylfosfaatsynth​etase·I</​Synonym>
45077 ········​<Synonym·​lang="nl">Hyperammoni​ëmie·​door·​CPS-​deficiëntie</​Synonym>45068 ········​<Synonym·​lang="nl">Hyperammoni​ëmie·​door·​CPS-​deficiëntie</​Synonym>
45078 ······​</​SynonymList>45069 ······​</​SynonymList>
45079 ······​<DisorderType·​id="21394">45070 ······​<DisorderType·​id="21394">
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45412 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
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45416 ····​</​Disorder>45400 ····​</​Disorder>
45417 ····​<Disorder·​id="457">45401 ····​<Disorder·​id="457">
46637 ····​<Disorder·​id="500">46621 ····​<Disorder·​id="500">
46638 ······​<OrphaCode>2113</​OrphaCode>46622 ······​<OrphaCode>2113</​OrphaCode>
46639 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2113</​ExpertLink>46623 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2113</​ExpertLink>
46640 ······​<Name·​lang="nl">Congenitaal​·​hypothalamisch·hamartoomsyndroom</​Name>46624 ······​<Name·​lang="nl">Congenitaal​·​hamartoom·van·hypothalamus-​syndroom</​Name>
46641 ······​<DisorderFlagList·​count="3">46625 ······​<DisorderFlagList·​count="3">
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46653 ········​</​DisorderFlag>46637 ········​</​DisorderFlag>
46654 ······​</​DisorderFlagList>46638 ······​</​DisorderFlagList>
46655 ······​<SynonymList·​count="2">46639 ······​<SynonymList·​count="1">
46656 ········​<Synonym·​lang="nl">CHHS</​Synonym>46640 ········​<Synonym·​lang="nl">CHHS</​Synonym>
46657 ········​<Synonym·​lang="nl">Congenitaal​·​hamartoom·​van·​de·​hypothalamus</​Synonym>
46658 ······​</​SynonymList>46641 ······​</​SynonymList>
46659 ······​<DisorderType·​id="21401">46642 ······​<DisorderType·​id="21401">
46660 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>46643 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
46823 ··········​<Label></​Label>46806 ··········​<Label></​Label>
46824 ········​</​DisorderFlag>46807 ········​</​DisorderFlag>
46825 ······​</​DisorderFlagList>46808 ······​</​DisorderFlagList>
46826 ······​<SynonymList·​count="6">46809 ······​<SynonymList·​count="3">
46827 ········​<Synonym·​lang="nl">4-​HPPD-​deficiëntie</​Synonym>46810 ········​<Synonym·​lang="nl">4-​HPPD-​deficiëntie</​Synonym>
46828 ········​<Synonym·​lang="nl">4-​alfa-​hydroxyfenylpyruvaat-​hydroxylasedeficiënti​e</​Synonym>46811 ········​<Synonym·​lang="nl">Deficiëntie​·van·4-​alfa-​hydroxyfenylpyruvaat-​hydroxylase</​Synonym>
46829 ········​<Synonym·​lang="nl">4-​hydroxyfenylpyrodruiv​enzuur-​dioxygenasedeficiënti​e</​Synonym>46812 ········​<Synonym·​lang="nl">Deficiëntie​·van·4-​hydroxyfenylpyrodruiv​enzuur-​dioxygenase</​Synonym>
46830 ········<Synonym·lang="nl">4-​hydroxyfenylpyrodruiv​enzuur-​hydroxylasedeficiënti​e</​Synonym>
46831 ········<Synonym·lang="nl">4-​hydroxyfenylpyruvaat-​dioxygenasedeficiënti​e</​Synonym>
46832 ········<Synonym·lang="nl">4-​hydroxyfenylpyruvaat-​hydroxylasedeficiënti​e</​Synonym>
46833 ······​</​SynonymList>46813 ······​</​SynonymList>
46834 ······​<DisorderType·​id="21394">46814 ······​<DisorderType·​id="21394">
46835 ········​<Name·​lang="nl">Ziekte</​Name>46815 ········​<Name·​lang="nl">Ziekte</​Name>
47293 ····​<Disorder·​id="492">47273 ····​<Disorder·​id="492">
47294 ······​<OrphaCode>2005</​OrphaCode>47274 ······​<OrphaCode>2005</​OrphaCode>
47295 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2005</​ExpertLink>47275 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2005</​ExpertLink>
47296 ······​<Name·​lang="nl">OBSOLEET:​·​Laryngo-​tracheo-​oesofageale·​spleet·​-​·​pulmonale·​hypoplasie</​Name>47276 ······​<Name·​lang="nl">OBSOLEET:​·​Laryngo-​tracheo-​oesofageale·​spleet·​-​·​pulmonale·​hypoplasie-​syndroom</​Name>
47297 ······​<DisorderFlagList·​count="2">47277 ······​<DisorderFlagList·​count="2">
47298 ········​<DisorderFlag·​id="495">47278 ········​<DisorderFlag·​id="495">
47299 ··········​<Value>8192</​Value>47279 ··········​<Value>8192</​Value>
47305 ········​</​DisorderFlag>47285 ········​</​DisorderFlag>
47306 ······​</​DisorderFlagList>47286 ······​</​DisorderFlagList>
47307 ······​<SynonymList·​count="1">47287 ······​<SynonymList·​count="1">
47308 ········​<Synonym·​lang="nl">Novaksyndro​om</​Synonym>47288 ········​<Synonym·​lang="nl">Syndroom·van·Novak</​Synonym>
47309 ······​</​SynonymList>47289 ······​</​SynonymList>
47310 ······​<DisorderType·​id="21401">47290 ······​<DisorderType·​id="21401">
47311 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>47291 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
49404 ······​</​ExternalReferenceList​>49384 ······​</​ExternalReferenceList​>
49405 ······​<DisorderDisorderAsso​ciationList·​count="0">49385 ······​<DisorderDisorderAsso​ciationList·​count="0">
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49407 ······​<SummaryInformationLi​st·​count="1">49387 ······​<SummaryInformationLi​st·​count="0">
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49412 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
49413 ··········</​TextAuto>
49414 ········</​SummaryInformation>
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49417 ····​<Disorder·​id="18155">49390 ····​<Disorder·​id="18155">
50420 ······​</​ExternalReferenceList​>50393 ······​</​ExternalReferenceList​>
50421 ······​<DisorderDisorderAsso​ciationList·​count="0">50394 ······​<DisorderDisorderAsso​ciationList·​count="0">
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50425 ··········<TextSectionList·count="0">
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50429 ··········</​TextAuto>
50430 ········</​SummaryInformation>
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50432 ····​</​Disorder>50398 ····​</​Disorder>
50433 ····​<Disorder·​id="560">50399 ····​<Disorder·​id="560">
52485 ······​</​ExternalReferenceList​>52451 ······​</​ExternalReferenceList​>
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52487 ······​</​DisorderDisorderAssoc​iationList>52453 ······​</​DisorderDisorderAssoc​iationList>
52488 ······​<SummaryInformationLi​st·​count="0">52454 ······​<SummaryInformationLi​st·​count="1">
52455 ········​<SummaryInformation·​id="128986"·​lang="nl">
52456 ··········​<TextSectionList·​count="1">
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52458 ··············​<TextSectionType·​id="16907">
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52461 ··············​<Contents>Een·​zeldzame·​maligne·​kiemceltumor,​·​gekarakteriseerd·​door·​embryonale·​lichaampjes·​die·​hoofdzakelijk·​bestaan·​uit·​een·​centrale·​kern·​van·​embryonale·​carcinoomcellen,​·​een·​amnion-​achtige·​holte,​·​en·​een·​component·​van·​dooierzaktumor.​·​De·​tumor·​komt·​meestal·​voor·​als·​de·​dominante·​component·​van·​een·​gemengde·​kiemceltumor,​·​meestal·​met·​teratoom·​als·​geassocieerd·​element.​·​Het·​kan·​zich·​manifesteren·​als·​een·​abdominale·​massa·​of·​met·​abdominale·​pijn,​·​menstruele·​onregelmatigheden,​·​of·​vroegtijdige·​puberteit·​bij·​vrouwen,​·​terwijl·​mannen·​zich·​doorgaans·​presenteren·​met·​vergroting·​van·​de·​testikels.​·​Gehaltes·​van·​alfafoetoproteïne·​en/​of·​bèta-​humaan·​choriongonadotrofine·​in·​serum·​kunnen·​verhoogd·​zijn.​</​Contents>
52462 ············​</​TextSection>
52463 ··········​</​TextSectionList>
52464 ········​</​SummaryInformation>
52489 ······​</​SummaryInformationLis​t>52465 ······​</​SummaryInformationLis​t>
52490 ····​</​Disorder>52466 ····​</​Disorder>
52491 ····​<Disorder·​id="527">52467 ····​<Disorder·​id="527">
52954 ······​</​ExternalReferenceList​>52930 ······​</​ExternalReferenceList​>
52955 ······​<DisorderDisorderAsso​ciationList·​count="0">52931 ······​<DisorderDisorderAsso​ciationList·​count="0">
52956 ······​</​DisorderDisorderAssoc​iationList>52932 ······​</​DisorderDisorderAssoc​iationList>
52957 ······​<SummaryInformationLi​st·​count="0">52933 ······​<SummaryInformationLi​st·​count="1">
52934 ········​<SummaryInformation·​id="129130"·​lang="nl">
52935 ··········​<TextSectionList·​count="1">
52936 ············​<TextSection·​id="167983"·​lang="nl">
52937 ··············​<TextSectionType·​id="16907">
52938 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
52939 ··············​</​TextSectionType>
52940 ··············​<Contents>Een·​groep·​van·​zeldzame·​tumoren·​van·​vagina·​bestaande·​uit·​HPV-​geassocieerd·​en·​HPV-​onafhankelijk·​plaveiselcelcarcinoom​,​·​glandulaire·​tumoren·​(waaronder·​HPV-​geassocieerd·​adenocarcinoom,​·​endometrioïd·​carcinoom,​·​heldercellig·​carcinoom,​·​gastrisch·​type·​en·​intestinaal·​type·​mucineus·​carcinoom,​·​en·​mesonefrisch·​adenocarcinoom)​,​·​adenocarcinoom·​afkomstig·​van·​Skene-​klieren,​·​adenosquameus·​carcinoom,​·​en·​adenoïd·​basaalcelcarcinoom.​·​Afhankelijk·​van·​het·​type·​van·​de·​tumor·​en·​het·​stadium·​van·​de·​ziekte·​kunnen·​patiënten·​zich·​presenteren·​met·​symptomen·​gerelateerd·​aan·​een·​vaginale·​massa,​·​vaginale·​bloeding·​en/​of·​afscheiding,​·​postcoïtale·​bloeding,​·​urinaire·​symptomen,​·​pijn·​in·​bekken,​·​en·​een·​gevoel·​van·​corpus·​alienum·​in·​de·​vagina.​</​Contents>
52941 ············​</​TextSection>
52942 ··········​</​TextSectionList>
52943 ········​</​SummaryInformation>
52958 ······​</​SummaryInformationLis​t>52944 ······​</​SummaryInformationLis​t>
52959 ····​</​Disorder>52945 ····​</​Disorder>
52960 ····​<Disorder·​id="532">52946 ····​<Disorder·​id="532">
53528 ······​</​ExternalReferenceList​>53514 ······​</​ExternalReferenceList​>
53529 ······​<DisorderDisorderAsso​ciationList·​count="0">53515 ······​<DisorderDisorderAsso​ciationList·​count="0">
53530 ······​</​DisorderDisorderAssoc​iationList>53516 ······​</​DisorderDisorderAssoc​iationList>
53531 ······​<SummaryInformationLi​st·​count="0">53517 ······​<SummaryInformationLi​st·​count="1">
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53522 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
53523 ··············​</​TextSectionType>
53524 ··············​<Contents>Een·​zeldzame·​kiemceltumor,​·​gekarakteriseerd·​door·​een·​samenstelling·​uit·​twee·​of·​meer·​componenten·​ontstaan·​uit·​maligne·​kiemcellen,​·​met·​als·​meest·​gangbare·​combinatie·​dysgerminoom·​en·​dooierzaktumor.​·​De·​tumoren·​treden·​doorgaans·​op·​tussen·​de·​kindertijd·​en·​jonge·​volwassenheid.​·​Meestal·​zijn·​ze·​gesitueerd·​in·​de·​gonaden,​·​maar·​soms·​ook·​in·​andere·​lichaamsdelen.​·​De·​klinische·​presentatie·​stemt·​overeen·​met·​de·​individuele·​componenten·​afkomstig·​van·​kiemcellen·​en·​de·​locatie·​van·​de·​tumor;​·​mogelijke·​manifestaties·​zijn·​onder·​meer·​abdominale·​pijn,​·​abdominale·​massa,​·​en·​menstruatiestoornis·​bij·​vrouwen,​·​en·​een·​massa·​van·​testis·​bij·​mannen.​·​Het·​stadium·​van·​de·​tumor·​is·​de·​belangrijkste·​prognostische·​factor.​</​Contents>
53525 ············​</​TextSection>
53526 ··········​</​TextSectionList>
53527 ········​</​SummaryInformation>
53532 ······​</​SummaryInformationLis​t>53528 ······​</​SummaryInformationLis​t>
53533 ····​</​Disorder>53529 ····​</​Disorder>
53534 ····​<Disorder·​id="18129">53530 ····​<Disorder·​id="18129">
53535 ······​<OrphaCode>180237</​OrphaCode>53531 ······​<OrphaCode>180237</​OrphaCode>
53536 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=180237</​ExpertLink>53532 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=180237</​ExpertLink>
53537 ······​<Name·​lang="nl">Goedaardige​·​tumor·​van·de·​eileider</​Name>53533 ······​<Name·​lang="nl">Goedaardige​·​tumor·​van·​eileider</​Name>
53538 ······​<DisorderFlagList·​count="1">53534 ······​<DisorderFlagList·​count="1">
53539 ········​<DisorderFlag·​id="475">53535 ········​<DisorderFlag·​id="475">
53540 ··········​<Value>1</​Value>53536 ··········​<Value>1</​Value>
53588 ······​</​ExternalReferenceList​>53584 ······​</​ExternalReferenceList​>
53589 ······​<DisorderDisorderAsso​ciationList·​count="0">53585 ······​<DisorderDisorderAsso​ciationList·​count="0">
53590 ······​</​DisorderDisorderAssoc​iationList>53586 ······​</​DisorderDisorderAssoc​iationList>
53591 ······​<SummaryInformationLi​st·​count="0">53587 ······​<SummaryInformationLi​st·​count="1">
53588 ········​<SummaryInformation·​id="129141"·​lang="nl">
53589 ··········​<TextSectionList·​count="1">
53590 ············​<TextSection·​id="167994"·​lang="nl">
53591 ··············​<TextSectionType·​id="16907">
53592 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
53593 ··············​</​TextSectionType>
53594 ··············​<Contents>Een·​groep·​van·​zeldzame·​adnexale·​tumoren·​van·​uterus,​·​bestaande·​uit·​niet-​metastaserende·​neoplasmata·​die·​ontstaan·​uit·​eileider.​·​Dit·​zijn·​onder·​meer·​epitheliale·​tumoren·​(goedaardige·​sereuze·​tumoren·​zoals·​sereus·​adenofibroom·​en·​papilloom)​·​en·​rijpe·​teratomen.​·​Patiënten·​kunnen·​asymptomatisch·​of·​zich·​presenteren·​met·​obstructie·​van·​eileider.​</​Contents>
53595 ············​</​TextSection>
53596 ··········​</​TextSectionList>
53597 ········​</​SummaryInformation>
53592 ······​</​SummaryInformationLis​t>53598 ······​</​SummaryInformationLis​t>
53593 ····​</​Disorder>53599 ····​</​Disorder>
53594 ····​<Disorder·​id="531">53600 ····​<Disorder·​id="531">
54694 ········​<DisorderDisorderAsso​ciation>54700 ········​<DisorderDisorderAsso​ciation>
54695 ··········​<TargetDisorder·​id="13906">54701 ··········​<TargetDisorder·​id="13906">
54696 ············​<OrphaCode>98889</​OrphaCode>54702 ············​<OrphaCode>98889</​OrphaCode>
54697 ············​<Name·​lang="nl">Bilaterale·​perisylviaanse·​polymicrogyrie</​Name>54703 ············​<Name·​lang="nl">Bilaterale·​perisylvische·​polymicrogyrie</​Name>
54698 ··········​</​TargetDisorder>54704 ··········​</​TargetDisorder>
54699 ··········​<RootDisorder·​id="536"·​cycle="true"/​>54705 ··········​<RootDisorder·​id="536"·​cycle="true"/​>
54700 ··········​<DisorderDisorderAsso​ciationType·​id="21471">54706 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
55114 ··············​<TextSectionType·​id="16907">55120 ··············​<TextSectionType·​id="16907">
55115 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>55121 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
55116 ··············​</​TextSectionType>55122 ··············​</​TextSectionType>
55117 ··············​<Contents>Fenylketonu​rie·(PKU)​·is·​de·meest·​voorkomende·​aangeboren·​afwijking·​van·​het·aminozuurmetabolisme·en·wordt·gekenmerkt·door·milde·tot·ernstige·verstandelijke·handicap·bij·onbehandelde·patiënten.​</​Contents>55123 ··············​<Contents>Een·zeldzaam·aangeboren·defect·van·aminozuurmetabolisme,​·gekarakteriseerd·​door·verhoogd·gehalte·​van·fenylalanine·in·bloed·en·lage·gehaltes·of·​afwezigheid·​van·​het·enzym·fenylalaninehydroxyla​se.​·Zonder·vroege·detectie·of·behandeling·manifesteert·de·aandoening·zich·met·milde·tot·ernstige·verstandelijke·beperking.​</​Contents>
55118 ············​</​TextSection>55124 ············​</​TextSection>
55119 ··········​</​TextSectionList>55125 ··········​</​TextSectionList>
55120 ········​</​SummaryInformation>55126 ········​</​SummaryInformation>
55853 ··········​<Label></​Label>55859 ··········​<Label></​Label>
55854 ········​</​DisorderFlag>55860 ········​</​DisorderFlag>
55855 ······​</​DisorderFlagList>55861 ······​</​DisorderFlagList>
55856 ······​<SynonymList·​count="0">55862 ······​<SynonymList·​count="1">
55863 ········​<Synonym·​lang="nl">Uterus·​bicornis</​Synonym>
55857 ······​</​SynonymList>55864 ······​</​SynonymList>
55858 ······​<DisorderType·​id="21436">55865 ······​<DisorderType·​id="21436">
55859 ········​<Name·​lang="nl">Group·​of·​phenomes</​Name>55866 ········​<Name·​lang="nl">Group·​of·​phenomes</​Name>
57621 ··············​<TextSectionType·​id="16907">57628 ··············​<TextSectionType·​id="16907">
57622 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>57629 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
57623 ··············​</​TextSectionType>57630 ··············​</​TextSectionType>
57624 ··············​<Contents>Fanconi-​anemie·(FA)​·is·een·erfelijke·stoornis·in·DNA-​herstel·die·wordt·gekenmerkt·​door·​progressieve·​pancytopenie·​met·​beenmergfalen,​·​variabele·​congenitale·​misvormingen·​en·​predispositie·​om·​hematologische·​of·vaste·​tumoren·te·ontwikkelen.​</​Contents>57631 ··············​<Contents>Een·zeldzame,​·genetische·multisystemische·aandoening,​·gekarakteriseerd·​door·​progressieve·​pancytopenie·​met·​beenmergfalen,​·​variabele·​congenitale·​malformaties,​·​en·​predispositie·voor·​ontwikkeling·van·​hematologische·​of·solide·​tumoren.​</​Contents>
57625 ············​</​TextSection>57632 ············​</​TextSection>
57626 ··········​</​TextSectionList>57633 ··········​</​TextSectionList>
57627 ········​</​SummaryInformation>57634 ········​</​SummaryInformation>
57630 ····​<Disorder·​id="18104">57637 ····​<Disorder·​id="18104">
57631 ······​<OrphaCode>180154</​OrphaCode>57638 ······​<OrphaCode>180154</​OrphaCode>
57632 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=180154</​ExpertLink>57639 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=180154</​ExpertLink>
57633 ······​<Name·​lang="nl">Vaginaal·septum</​Name>57640 ······​<Name·​lang="nl">Septum·van·vagina</​Name>
57634 ······​<DisorderFlagList·​count="1">57641 ······​<DisorderFlagList·​count="1">
57635 ········​<DisorderFlag·​id="475">57642 ········​<DisorderFlag·​id="475">
57636 ··········​<Value>1</​Value>57643 ··········​<Value>1</​Value>
57637 ··········​<Label></​Label>57644 ··········​<Label></​Label>
57638 ········​</​DisorderFlag>57645 ········​</​DisorderFlag>
57639 ······​</​DisorderFlagList>57646 ······​</​DisorderFlagList>
57640 ······​<SynonymList·​count="0">57647 ······​<SynonymList·​count="1">
57648 ········​<Synonym·​lang="nl">Vaginaal·​septum</​Synonym>
57641 ······​</​SynonymList>57649 ······​</​SynonymList>
57642 ······​<DisorderType·​id="21415">57650 ······​<DisorderType·​id="21415">
57643 ········​<Name·​lang="nl">Morfologisc​he·​anomalie</​Name>57651 ········​<Name·​lang="nl">Morfologisc​he·​anomalie</​Name>
62125 ····​<Disorder·​id="18018">62133 ····​<Disorder·​id="18018">
62126 ······​<OrphaCode>178345</​OrphaCode>62134 ······​<OrphaCode>178345</​OrphaCode>
62127 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=178345</​ExpertLink>62135 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=178345</​ExpertLink>
62128 ······​<Name·​lang="nl">Aromataseov​ermaatsyndroom</​Name>62136 ······​<Name·​lang="nl">Syndroom·van·overmaat·aan·aromatase</​Name>
62129 ······​<DisorderFlagList·​count="1">62137 ······​<DisorderFlagList·​count="1">
62130 ········​<DisorderFlag·​id="475">62138 ········​<DisorderFlag·​id="475">
62131 ··········​<Value>1</​Value>62139 ··········​<Value>1</​Value>
62391 ····​<Disorder·​id="673">62399 ····​<Disorder·​id="673">
62392 ······​<OrphaCode>3137</​OrphaCode>62400 ······​<OrphaCode>3137</​OrphaCode>
62393 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=3137</​ExpertLink>62401 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=3137</​ExpertLink>
62394 ······​<Name·​lang="nl">Alfa-​N-​acetylgalactosaminida​sedeficiëntie</​Name>62402 ······​<Name·​lang="nl">Deficiëntie​·van·alfa-​N-​acetylgalactosaminida​se</​Name>
62395 ······​<DisorderFlagList·​count="1">62403 ······​<DisorderFlagList·​count="1">
62396 ········​<DisorderFlag·​id="475">62404 ········​<DisorderFlag·​id="475">
62397 ··········​<Value>1</​Value>62405 ··········​<Value>1</​Value>
66487 ····​<Disorder·​id="18013">66495 ····​<Disorder·​id="18013">
66488 ······​<OrphaCode>178320</​OrphaCode>66496 ······​<OrphaCode>178320</​OrphaCode>
66489 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=178320</​ExpertLink>66497 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=178320</​ExpertLink>
66490 ······​<Name·​lang="nl">Acuut·​longletsel</​Name>66498 ······​<Name·​lang="nl">Acuut·​letsel·van·long</​Name>
66491 ······​<DisorderFlagList·​count="1">66499 ······​<DisorderFlagList·​count="1">
66492 ········​<DisorderFlag·​id="475">66500 ········​<DisorderFlag·​id="475">
66493 ··········​<Value>1</​Value>66501 ··········​<Value>1</​Value>
66494 ··········​<Label></​Label>66502 ··········​<Label></​Label>
66495 ········​</​DisorderFlag>66503 ········​</​DisorderFlag>
66496 ······​</​DisorderFlagList>66504 ······​</​DisorderFlagList>
66497 ······​<SynonymList·​count="0">66505 ······​<SynonymList·​count="1">
66506 ········​<Synonym·​lang="nl">Acuut·​longletsel</​Synonym>
66498 ······​</​SynonymList>66507 ······​</​SynonymList>
66499 ······​<DisorderType·​id="21429">66508 ······​<DisorderType·​id="21429">
66500 ········​<Name·​lang="nl">Particulair​e·​klinische·​situatie·​binnen·​een·​ziekte·​of·​syndroom</​Name>66509 ········​<Name·​lang="nl">Particulair​e·​klinische·​situatie·​binnen·​een·​ziekte·​of·​syndroom</​Name>
66595 ······​</​DisorderFlagList>66604 ······​</​DisorderFlagList>
66596 ······​<SynonymList·​count="3">66605 ······​<SynonymList·​count="3">
66597 ········​<Synonym·​lang="nl">AIED</​Synonym>66606 ········​<Synonym·​lang="nl">AIED</​Synonym>
66598 ········​<Synonym·​lang="nl">Forsius-​Erikssonsyndroom</​Synonym>
66599 ········​<Synonym·​lang="nl">Oculair·​albinisme,​·​Forsius-​Eriksson-​type</​Synonym>66607 ········​<Synonym·​lang="nl">Oculair·​albinisme,​·​Forsius-​Eriksson-​type</​Synonym>
66608 ········​<Synonym·​lang="nl">Syndroom·​van·​Forsius-​Eriksson</​Synonym>
66600 ······​</​SynonymList>66609 ······​</​SynonymList>
66601 ······​<DisorderType·​id="21394">66610 ······​<DisorderType·​id="21394">
66602 ········​<Name·​lang="nl">Ziekte</​Name>66611 ········​<Name·​lang="nl">Ziekte</​Name>
66712 ····​<Disorder·​id="671">66721 ····​<Disorder·​id="671">
66713 ······​<OrphaCode>760</​OrphaCode>66722 ······​<OrphaCode>760</​OrphaCode>
66714 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=760</​ExpertLink>66723 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=760</​ExpertLink>
66715 ······​<Name·​lang="nl">Purinenucle​osidefosforylasedefic​iëntie</​Name>66724 ······​<Name·​lang="nl">Deficiëntie​·van·purinenucleosidefosfo​rylase</​Name>
66716 ······​<DisorderFlagList·​count="1">66725 ······​<DisorderFlagList·​count="1">
66717 ········​<DisorderFlag·​id="475">66726 ········​<DisorderFlag·​id="475">
66718 ··········​<Value>1</​Value>66727 ··········​<Value>1</​Value>
66945 ····​<Disorder·​id="18009">66954 ····​<Disorder·​id="18009">
66946 ······​<OrphaCode>178303</​OrphaCode>66955 ······​<OrphaCode>178303</​OrphaCode>
66947 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=178303</​ExpertLink>66956 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=178303</​ExpertLink>
66948 ······​<Name·​lang="nl">8q22.​1·microdeletiesyndroom<​/​Name>66957 ······​<Name·​lang="nl">8q22.​1-​microdeletiesyndroom<​/​Name>
66949 ······​<DisorderFlagList·​count="1">66958 ······​<DisorderFlagList·​count="1">
66950 ········​<DisorderFlag·​id="475">66959 ········​<DisorderFlag·​id="475">
66951 ··········​<Value>1</​Value>66960 ··········​<Value>1</​Value>
67925 ··········​<Label></​Label>67934 ··········​<Label></​Label>
67926 ········​</​DisorderFlag>67935 ········​</​DisorderFlag>
67927 ······​</​DisorderFlagList>67936 ······​</​DisorderFlagList>
67928 ······​<SynonymList·​count="3">67937 ······​<SynonymList·​count="2">
67929 ········​<Synonym·​lang="nl">Bourneville​syndroom</​Synonym>67938 ········​<Synonym·​lang="nl">Syndroom·van·Bourneville</​Synonym>
67930 ········​<Synonym·​lang="nl">Tubereuze·​sclerose</​Synonym>67939 ········​<Synonym·​lang="nl">Tubereuze·​sclerose</​Synonym>
67931 ········​<Synonym·​lang="nl">Tubereuze·​sclerosis</​Synonym>
67932 ······​</​SynonymList>67940 ······​</​SynonymList>
67933 ······​<DisorderType·​id="21394">67941 ······​<DisorderType·​id="21394">
67934 ········​<Name·​lang="nl">Ziekte</​Name>67942 ········​<Name·​lang="nl">Ziekte</​Name>
69145 ······​</​ExternalReferenceList​>69153 ······​</​ExternalReferenceList​>
69146 ······​<DisorderDisorderAsso​ciationList·​count="0">69154 ······​<DisorderDisorderAsso​ciationList·​count="0">
69147 ······​</​DisorderDisorderAssoc​iationList>69155 ······​</​DisorderDisorderAssoc​iationList>
69148 ······​<SummaryInformationLi​st·​count="1">69156 ······​<SummaryInformationLi​st·​count="0">
69149 ········<SummaryInformation·id="-​1"·lang="nl">
69150 ··········<TextSectionList·count="0">
69151 ··········</​TextSectionList>
69152 ··········<TextAuto>
69153 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
69154 ··········</​TextAuto>
69155 ········</​SummaryInformation>
69156 ······​</​SummaryInformationLis​t>69157 ······​</​SummaryInformationLis​t>
69157 ····​</​Disorder>69158 ····​</​Disorder>
69158 ····​<Disorder·​id="659">69159 ····​<Disorder·​id="659">
71384 ······​</​ExternalReferenceList​>71385 ······​</​ExternalReferenceList​>
71385 ······​<DisorderDisorderAsso​ciationList·​count="0">71386 ······​<DisorderDisorderAsso​ciationList·​count="0">
71386 ······​</​DisorderDisorderAssoc​iationList>71387 ······​</​DisorderDisorderAssoc​iationList>
71387 ······​<SummaryInformationLi​st·​count="1">71388 ······​<SummaryInformationLi​st·​count="0">
71388 ········<SummaryInformation·id="-​1"·lang="nl">
71389 ··········<TextSectionList·count="0">
71390 ··········</​TextSectionList>
71391 ··········<TextAuto>
71392 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
71393 ··········</​TextAuto>
71394 ········</​SummaryInformation>
71395 ······​</​SummaryInformationLis​t>71389 ······​</​SummaryInformationLis​t>
71396 ····​</​Disorder>71390 ····​</​Disorder>
71397 ····​<Disorder·​id="738">71391 ····​<Disorder·​id="738">
71870 ······​</​ExternalReferenceList​>71864 ······​</​ExternalReferenceList​>
71871 ······​<DisorderDisorderAsso​ciationList·​count="0">71865 ······​<DisorderDisorderAsso​ciationList·​count="0">
71872 ······​</​DisorderDisorderAssoc​iationList>71866 ······​</​DisorderDisorderAssoc​iationList>
71873 ······​<SummaryInformationLi​st·​count="1">71867 ······​<SummaryInformationLi​st·​count="0">
71874 ········<SummaryInformation·id="-​1"·lang="nl">
71875 ··········<TextSectionList·count="0">
71876 ··········</​TextSectionList>
71877 ··········<TextAuto>
71878 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
71879 ··········</​TextAuto>
71880 ········</​SummaryInformation>
71881 ······​</​SummaryInformationLis​t>71868 ······​</​SummaryInformationLis​t>
71882 ····​</​Disorder>71869 ····​</​Disorder>
71883 ····​<Disorder·​id="741">71870 ····​<Disorder·​id="741">
72120 ····​<Disorder·​id="763">72107 ····​<Disorder·​id="763">
72121 ······​<OrphaCode>46</​OrphaCode>72108 ······​<OrphaCode>46</​OrphaCode>
72122 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=46</​ExpertLink>72109 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=46</​ExpertLink>
72123 ······​<Name·​lang="nl">Adenylosucc​inaatlyasedeficiëntie​</​Name>72110 ······​<Name·​lang="nl">Deficiëntie​·van·adenylosuccinaatlyase​</​Name>
72124 ······​<DisorderFlagList·​count="1">72111 ······​<DisorderFlagList·​count="1">
72125 ········​<DisorderFlag·​id="475">72112 ········​<DisorderFlag·​id="475">
72126 ··········​<Value>1</​Value>72113 ··········​<Value>1</​Value>
72129 ······​</​DisorderFlagList>72116 ······​</​DisorderFlagList>
72130 ······​<SynonymList·​count="2">72117 ······​<SynonymList·​count="2">
72131 ········​<Synonym·​lang="nl">ADSL-​deficiëntie</​Synonym>72118 ········​<Synonym·​lang="nl">ADSL-​deficiëntie</​Synonym>
72132 ········​<Synonym·​lang="nl">Adenylosucc​inasedeficiëntie</​Synonym>72119 ········​<Synonym·​lang="nl">Deficiëntie​·van·adenylosuccinase</​Synonym>
72133 ······​</​SynonymList>72120 ······​</​SynonymList>
72134 ······​<DisorderType·​id="21394">72121 ······​<DisorderType·​id="21394">
72135 ········​<Name·​lang="nl">Ziekte</​Name>72122 ········​<Name·​lang="nl">Ziekte</​Name>
73808 ····​<Disorder·​id="17931">73795 ····​<Disorder·​id="17931">
73809 ······​<OrphaCode>171706</​OrphaCode>73796 ······​<OrphaCode>171706</​OrphaCode>
73810 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=171706</​ExpertLink>73797 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=171706</​ExpertLink>
73811 ······​<Name·​lang="nl">Kleine·​gestalte·​-​·uitgestelde·​botleeftijd·​door·​schildklierhormoonmet​abolismedeficiëntie</​Name>73798 ······​<Name·​lang="nl">Kleine·​gestalte·​-​·vertraagde·​botleeftijd·​door·deficiëntie·in·​schildklierhormoonmet​abolisme</​Name>
73812 ······​<DisorderFlagList·​count="1">73799 ······​<DisorderFlagList·​count="1">
73813 ········​<DisorderFlag·​id="475">73800 ········​<DisorderFlag·​id="475">
73814 ··········​<Value>1</​Value>73801 ··········​<Value>1</​Value>
76572 ····​<Disorder·​id="17950">76559 ····​<Disorder·​id="17950">
76573 ······​<OrphaCode>171886</​OrphaCode>76560 ······​<OrphaCode>171886</​OrphaCode>
76574 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=171886</​ExpertLink>76561 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=171886</​ExpertLink>
76575 ······​<Name·​lang="nl">Cilindervor​mige·spiralen·myopathie</​Name>76562 ······​<Name·​lang="nl">Myopathie·met·cilindrische·spiralen</​Name>
76576 ······​<DisorderFlagList·​count="1">76563 ······​<DisorderFlagList·​count="1">
76577 ········​<DisorderFlag·​id="475">76564 ········​<DisorderFlag·​id="475">
76578 ··········​<Value>1</​Value>76565 ··········​<Value>1</​Value>
79123 ········​</​DisorderFlag>79110 ········​</​DisorderFlag>
79124 ······​</​DisorderFlagList>79111 ······​</​DisorderFlagList>
79125 ······​<SynonymList·​count="2">79112 ······​<SynonymList·​count="2">
79126 ········​<Synonym·​lang="nl">Auto-​immune·​hemolytische·​anemie·​en·​auto-​immune·​trombocytopenie</​Synonym>79113 ········​<Synonym·​lang="nl">Auto-​immuun·​hemolytische·​anemie·​en·​auto-​immuun·​trombocytopenie</​Synonym>
79127 ········​<Synonym·​lang="nl">Immune·​pancytopenie</​Synonym>79114 ········​<Synonym·​lang="nl">Immuun·​pancytopenie</​Synonym>
79128 ······​</​SynonymList>79115 ······​</​SynonymList>
79129 ······​<DisorderType·​id="21394">79116 ······​<DisorderType·​id="21394">
79130 ········​<Name·​lang="nl">Ziekte</​Name>79117 ········​<Name·​lang="nl">Ziekte</​Name>
79317 ····​<Disorder·​id="825">79304 ····​<Disorder·​id="825">
79318 ······​<OrphaCode>1177</​OrphaCode>79305 ······​<OrphaCode>1177</​OrphaCode>
79319 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1177</​ExpertLink>79306 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1177</​ExpertLink>
79320 ······​<Name·​lang="nl">Vroeg·beginnende·​cerebellaire·​ataxie·​met·​behoud·​van·​peesreflexen</​Name>79307 ······​<Name·​lang="nl">Vroeg·optredende·​cerebellaire·​ataxie·​met·​behoud·​van·​peesreflexen</​Name>
79321 ······​<DisorderFlagList·​count="1">79308 ······​<DisorderFlagList·​count="1">
79322 ········​<DisorderFlag·​id="475">79309 ········​<DisorderFlag·​id="475">
79323 ··········​<Value>1</​Value>79310 ··········​<Value>1</​Value>
79325 ········​</​DisorderFlag>79312 ········​</​DisorderFlag>
79326 ······​</​DisorderFlagList>79313 ······​</​DisorderFlagList>
79327 ······​<SynonymList·​count="3">79314 ······​<SynonymList·​count="3">
79315 ········​<Synonym·​lang="nl">Ataxie·​van·​Harding</​Synonym>
79328 ········​<Synonym·​lang="nl">EOCA</​Synonym>79316 ········​<Synonym·​lang="nl">EOCA</​Synonym>
79329 ········​<Synonym·​lang="nl">EOCARR</​Synonym>79317 ········​<Synonym·​lang="nl">EOCARR</​Synonym>
79330 ········​<Synonym·​lang="nl">Hardingatax​ie</​Synonym>
79331 ······​</​SynonymList>79318 ······​</​SynonymList>
79332 ······​<DisorderType·​id="21394">79319 ······​<DisorderType·​id="21394">
79333 ········​<Name·​lang="nl">Ziekte</​Name>79320 ········​<Name·​lang="nl">Ziekte</​Name>
80680 ······​</​ExternalReferenceList​>80667 ······​</​ExternalReferenceList​>
80681 ······​<DisorderDisorderAsso​ciationList·​count="0">80668 ······​<DisorderDisorderAsso​ciationList·​count="0">
80682 ······​</​DisorderDisorderAssoc​iationList>80669 ······​</​DisorderDisorderAssoc​iationList>
80683 ······​<SummaryInformationLi​st·​count="0">80670 ······​<SummaryInformationLi​st·​count="1">
80671 ········​<SummaryInformation·​id="129005"·​lang="nl">
80672 ··········​<TextSectionList·​count="1">
80673 ············​<TextSection·​id="167929"·​lang="nl">
80674 ··············​<TextSectionType·​id="16907">
80675 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
80676 ··············​</​TextSectionType>
80677 ··············​<Contents>Een·​zeldzame·​tumor·​van·​nier,​·​gekarakteriseerd·​door·​een·​unilateraal,​·​solitair,​·​goed·​begrensd,​·​mesenchymaal/​myofibroblastisch·​neoplasma·​dat·​optreedt·​bij·​zeer·​jonge·​kinderen.​·​Histopathologisch·​kunnen·​drie·​subtypes·​(klassiek,​·​cellulair,​·​en·​gemengd)​·​onderscheiden·​worden.​·​De·​tumor·​treft·​doorgaans·​de·​sinus·​renalis·​en·​wordt·​meestal·​ontdekt·​als·​een·​palpabele·​abdominale·​massa.​·​Patiënten·​kunnen·​zich·​ook·​presenteren·​met·​hypertensie·​of·​hematurie,​·​en·​in·​zeldzame·​gevallen·​met·​hypercalciëmie·​of·​hyperreninemie.​·​Prenatale·​presentatie,​·​meestal·​met·​polyhydramnion,​·​komt·​maar·​weinig·​voor.​·​De·​belangrijkste·​prognostische·​factor·​is·​de·​volledigheid·​van·​chirurgische·​excisie.​·​Algemeen·​genomen·​is·​het·​maligne·​potentieel·​laag·​en·​de·​klinische·​uitkomst·​gunstig.​</​Contents>
80678 ············​</​TextSection>
80679 ··········​</​TextSectionList>
80680 ········​</​SummaryInformation>
80684 ······​</​SummaryInformationLis​t>80681 ······​</​SummaryInformationLis​t>
80685 ····​</​Disorder>80682 ····​</​Disorder>
80686 ····​<Disorder·​id="812">80683 ····​<Disorder·​id="812">
82121 ····​<Disorder·​id="18389">82118 ····​<Disorder·​id="18389">
82122 ······​<OrphaCode>199285</​OrphaCode>82119 ······​<OrphaCode>199285</​OrphaCode>
82123 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=199285</​ExpertLink>82120 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=199285</​ExpertLink>
82124 ······​<Name·​lang="nl">Erfelijke·​hypercarotenemie·​en·​vitamine·​A-​deficiëntie</​Name>82121 ······​<Name·​lang="nl">Hereditaire​·​hypercarotenemie·​en·​vitamine·​A-​deficiëntie</​Name>
82125 ······​<DisorderFlagList·​count="1">82122 ······​<DisorderFlagList·​count="1">
82126 ········​<DisorderFlag·​id="475">82123 ········​<DisorderFlag·​id="475">
82127 ··········​<Value>1</​Value>82124 ··········​<Value>1</​Value>
84520 ····​<Disorder·​id="18373">84517 ····​<Disorder·​id="18373">
84521 ······​<OrphaCode>189424</​OrphaCode>84518 ······​<OrphaCode>189424</​OrphaCode>
84522 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=189424</​ExpertLink>84519 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=189424</​ExpertLink>
84523 ······​<Name·​lang="nl">OBSOLEET:​·​ACTH-​onafhankelijk·Cushingsyndroom·​door·​bilaterale·​adrenocorticale·​hyperplasie</​Name>84520 ······​<Name·​lang="nl">OBSOLEET:​·​ACTH-​onafhankelijk·syndroom·van·Cushing·​door·​bilaterale·​adrenocorticale·​hyperplasie</​Name>
84524 ······​<DisorderFlagList·​count="2">84521 ······​<DisorderFlagList·​count="2">
84525 ········​<DisorderFlag·​id="495">84522 ········​<DisorderFlag·​id="495">
84526 ··········​<Value>8192</​Value>84523 ··········​<Value>8192</​Value>
84532 ········​</​DisorderFlag>84529 ········​</​DisorderFlag>
84533 ······​</​DisorderFlagList>84530 ······​</​DisorderFlagList>
84534 ······​<SynonymList·​count="1">84531 ······​<SynonymList·​count="1">
84535 ········​<Synonym·​lang="nl">ACTH-​onafhankelijk·Cushingsyndroom·​door·​bilaterale·​bijnierschorshyperpla​sie</​Synonym>84532 ········​<Synonym·​lang="nl">ACTH-​onafhankelijk·syndroom·van·Cushing·​door·​bilaterale·​bijnierschorshyperpla​sie</​Synonym>
84536 ······​</​SynonymList>84533 ······​</​SynonymList>
84537 ······​<DisorderType·​id="36561">84534 ······​<DisorderType·​id="36561">
84538 ········​<Name·​lang="nl">Category</​Name>84535 ········​<Name·​lang="nl">Category</​Name>
90036 ····​<Disorder·​id="857">90033 ····​<Disorder·​id="857">
90037 ······​<OrphaCode>2587</​OrphaCode>90034 ······​<OrphaCode>2587</​OrphaCode>
90038 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2587</​ExpertLink>90035 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2587</​ExpertLink>
90039 ······​<Name·​lang="nl">Myeloperoxi​dasedeficiëntie</​Name>90036 ······​<Name·​lang="nl">Deficiëntie​·van·myeloperoxidase</​Name>
90040 ······​<DisorderFlagList·​count="1">90037 ······​<DisorderFlagList·​count="1">
90041 ········​<DisorderFlag·​id="475">90038 ········​<DisorderFlag·​id="475">
90042 ··········​<Value>1</​Value>90039 ··········​<Value>1</​Value>
96742 ········​<Synonym·​lang="nl">FH1</​Synonym>96739 ········​<Synonym·​lang="nl">FH1</​Synonym>
96743 ········​<Synonym·​lang="nl">Familiaal·​hyperaldosteronisme·​type·​1</​Synonym>96740 ········​<Synonym·​lang="nl">Familiaal·​hyperaldosteronisme·​type·​1</​Synonym>
96744 ········​<Synonym·​lang="nl">GRA</​Synonym>96741 ········​<Synonym·​lang="nl">GRA</​Synonym>
96745 ········​<Synonym·​lang="nl">Glucocortic​oïdegevoelige·​hypertensie</​Synonym>96742 ········​<Synonym·​lang="nl">Glucocortic​oïdgevoelige·​hypertensie</​Synonym>
96746 ········​<Synonym·​lang="nl">Glucocortic​oïdeherstelbaar·​aldosteronisme</​Synonym>96743 ········​<Synonym·​lang="nl">Glucocortic​oïdherstelbaar·​aldosteronisme</​Synonym>
96747 ······​</​SynonymList>96744 ······​</​SynonymList>
96748 ······​<DisorderType·​id="21394">96745 ······​<DisorderType·​id="21394">
96749 ········​<Name·​lang="nl">Ziekte</​Name>96746 ········​<Name·​lang="nl">Ziekte</​Name>
97118 ······​</​ExternalReferenceList​>97115 ······​</​ExternalReferenceList​>
97119 ······​<DisorderDisorderAsso​ciationList·​count="0">97116 ······​<DisorderDisorderAsso​ciationList·​count="0">
97120 ······​</​DisorderDisorderAssoc​iationList>97117 ······​</​DisorderDisorderAssoc​iationList>
97121 ······​<SummaryInformationLi​st·​count="1">97118 ······​<SummaryInformationLi​st·​count="0">
97122 ········<SummaryInformation·id="-​1"·lang="nl">
97123 ··········<TextSectionList·count="0">
97124 ··········</​TextSectionList>
97125 ··········<TextAuto>
97126 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
97127 ··········</​TextAuto>
97128 ········</​SummaryInformation>
97129 ······​</​SummaryInformationLis​t>97119 ······​</​SummaryInformationLis​t>
97130 ····​</​Disorder>97120 ····​</​Disorder>
97131 ····​<Disorder·​id="906">97121 ····​<Disorder·​id="906">
97758 ····​<Disorder·​id="901">97748 ····​<Disorder·​id="901">
97759 ······​<OrphaCode>157</​OrphaCode>97749 ······​<OrphaCode>157</​OrphaCode>
97760 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=157</​ExpertLink>97750 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=157</​ExpertLink>
97761 ······​<Name·​lang="nl">Carnitinepa​lmitoyltransferase·​II-​deficiëntie</​Name>97751 ······​<Name·​lang="nl">Deficiëntie​·van·carnitinepalmitoyltra​nsferase·​II</​Name>
97762 ······​<DisorderFlagList·​count="1">97752 ······​<DisorderFlagList·​count="1">
97763 ········​<DisorderFlag·​id="475">97753 ········​<DisorderFlag·​id="475">
97764 ··········​<Value>1</​Value>97754 ··········​<Value>1</​Value>
97765 ··········​<Label></​Label>97755 ··········​<Label></​Label>
97766 ········​</​DisorderFlag>97756 ········​</​DisorderFlag>
97767 ······​</​DisorderFlagList>97757 ······​</​DisorderFlagList>
97768 ······​<SynonymList·​count="3">97758 ······​<SynonymList·​count="4">
97769 ········​<Synonym·​lang="nl">CPT2</​Synonym>97759 ········​<Synonym·​lang="nl">CPT2</​Synonym>
97770 ········​<Synonym·​lang="nl">CPTII</​Synonym>97760 ········​<Synonym·​lang="nl">CPTII</​Synonym>
97771 ········​<Synonym·​lang="nl">Carnitinepa​lmitoyltransferasedef​iciëntie·type·2</​Synonym>97761 ········​<Synonym·​lang="nl">Carnitinepa​lmitoyltransferase-​II-​deficiëntie</​Synonym>
97762 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​carnitinepalmitoyltra​nsferase·​type·​2</​Synonym>
97772 ······​</​SynonymList>97763 ······​</​SynonymList>
97773 ······​<DisorderType·​id="21394">97764 ······​<DisorderType·​id="21394">
97774 ········​<Name·​lang="nl">Ziekte</​Name>97765 ········​<Name·​lang="nl">Ziekte</​Name>
100104 ······​</​DisorderFlagList>100095 ······​</​DisorderFlagList>
100105 ······​<SynonymList·​count="5">100096 ······​<SynonymList·​count="5">
100106 ········​<Synonym·​lang="nl">BSCL</​Synonym>100097 ········​<Synonym·​lang="nl">BSCL</​Synonym>
100098 ········​<Synonym·​lang="nl">CGL</​Synonym>
100107 ········​<Synonym·​lang="nl">Congenitale​·​lipodystrofie·​van·​Berardinelli-​Seip</​Synonym>100099 ········​<Synonym·​lang="nl">Congenitale​·​lipodystrofie·​van·​Berardinelli-​Seip</​Synonym>
100108 ········​<Synonym·​lang="nl">GCL</​Synonym>
100109 ········​<Synonym·​lang="nl">Lipoatrofis​che·​diabetes</​Synonym>100100 ········​<Synonym·​lang="nl">Lipoatrofis​che·​diabetes</​Synonym>
100110 ········​<Synonym·​lang="nl">Syndroom·​van·​Beradinelli-​Seip</​Synonym>100101 ········​<Synonym·​lang="nl">Syndroom·​van·​Beradinelli-​Seip</​Synonym>
100111 ······​</​SynonymList>100102 ······​</​SynonymList>
100240 ··········​</​DisorderDisorderAssoc​iationType>100231 ··········​</​DisorderDisorderAssoc​iationType>
100241 ········​</​DisorderDisorderAssoc​iation>100232 ········​</​DisorderDisorderAssoc​iation>
100242 ······​</​DisorderDisorderAssoc​iationList>100233 ······​</​DisorderDisorderAssoc​iationList>
100243 ······​<SummaryInformationLi​st·​count="0">100234 ······​<SummaryInformationLi​st·​count="1">
100235 ········​<SummaryInformation·​id="129159"·​lang="nl">
100236 ··········​<TextSectionList·​count="1">
100237 ············​<TextSection·​id="168105"·​lang="nl">
100238 ··············​<TextSectionType·​id="16907">
100239 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
100240 ··············​</​TextSectionType>
100241 ··············​<Contents>Een·​zeldzame·​autosomaal·​recessieve·​vorm·​van·​lipodystrofie,​·​gekarakteriseerd·​door·​de·​associatie·​van·​gegeneraliseerde·​lipoatrofie·​met·​acromegaloïde·​kenmerken,​·​spierhypertrofie,​·​insulineresistentie,​·​hypertriglyceridemie,​·​en·​leversteatose.​</​Contents>
100242 ············​</​TextSection>
100243 ··········​</​TextSectionList>
100244 ········​</​SummaryInformation>
100244 ······​</​SummaryInformationLis​t>100245 ······​</​SummaryInformationLis​t>
100245 ····​</​Disorder>100246 ····​</​Disorder>
100246 ····​<Disorder·​id="18223">100247 ····​<Disorder·​id="18223">
101269 ······​</​ExternalReferenceList​>101270 ······​</​ExternalReferenceList​>
101270 ······​<DisorderDisorderAsso​ciationList·​count="0">101271 ······​<DisorderDisorderAsso​ciationList·​count="0">
101271 ······​</​DisorderDisorderAssoc​iationList>101272 ······​</​DisorderDisorderAssoc​iationList>
101272 ······​<SummaryInformationLi​st·​count="1">101273 ······​<SummaryInformationLi​st·​count="0">
101273 ········<SummaryInformation·id="-​1"·lang="nl">
101274 ··········<TextSectionList·count="0">
101275 ··········</​TextSectionList>
101276 ··········<TextAuto>
101277 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
101278 ··········</​TextAuto>
101279 ········</​SummaryInformation>
101280 ······​</​SummaryInformationLis​t>101274 ······​</​SummaryInformationLis​t>
101281 ····​</​Disorder>101275 ····​</​Disorder>
101282 ····​<Disorder·​id="18202">101276 ····​<Disorder·​id="18202">
101995 ······​</​ExternalReferenceList​>101989 ······​</​ExternalReferenceList​>
101996 ······​<DisorderDisorderAsso​ciationList·​count="0">101990 ······​<DisorderDisorderAsso​ciationList·​count="0">
101997 ······​</​DisorderDisorderAssoc​iationList>101991 ······​</​DisorderDisorderAssoc​iationList>
101998 ······​<SummaryInformationLi​st·​count="1">101992 ······​<SummaryInformationLi​st·​count="0">
101999 ········<SummaryInformation·id="-​1"·lang="nl">
102000 ··········<TextSectionList·count="0">
102001 ··········</​TextSectionList>
102002 ··········<TextAuto>
102003 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
102004 ··········</​TextAuto>
102005 ········</​SummaryInformation>
102006 ······​</​SummaryInformationLis​t>101993 ······​</​SummaryInformationLis​t>
102007 ····​</​Disorder>101994 ····​</​Disorder>
102008 ····​<Disorder·​id="18199">101995 ····​<Disorder·​id="18199">
104068 ······​</​ExternalReferenceList​>104055 ······​</​ExternalReferenceList​>
104069 ······​<DisorderDisorderAsso​ciationList·​count="0">104056 ······​<DisorderDisorderAsso​ciationList·​count="0">
104070 ······​</​DisorderDisorderAssoc​iationList>104057 ······​</​DisorderDisorderAssoc​iationList>
104071 ······​<SummaryInformationLi​st·​count="1">104058 ······​<SummaryInformationLi​st·​count="0">
104072 ········<SummaryInformation·id="-​1"·lang="nl">
104073 ··········<TextSectionList·count="0">
104074 ··········</​TextSectionList>
104075 ··········<TextAuto>
104076 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
104077 ··········</​TextAuto>
104078 ········</​SummaryInformation>
104079 ······​</​SummaryInformationLis​t>104059 ······​</​SummaryInformationLis​t>
104080 ····​</​Disorder>104060 ····​</​Disorder>
104081 ····​<Disorder·​id="965">104061 ····​<Disorder·​id="965">
105185 ··············​<TextSectionType·​id="16907">105165 ··············​<TextSectionType·​id="16907">
105186 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>105166 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
105187 ··············​</​TextSectionType>105167 ··············​</​TextSectionType>
105188 ··············​<Contents>Een·​zeldzame,​·​multisystemische,​·​genetische·​aandoening,​·​gekarakteriseerd·​door·​lentigines,​·​hypertrofische·​cardiomyopathie,​·​kleine·​gestalte,​·​misvorming·​van·pectus,​·​en·​dysmorfe·​gelaatskenmerken.​</​Contents>105168 ··············​<Contents>Een·​zeldzame,​·​multisystemische,​·​genetische·​aandoening,​·​gekarakteriseerd·​door·cutane·​lentigines,​·​hypertrofische·​cardiomyopathie,​·​kleine·​gestalte,​·​misvorming·​van·borstwand,​·​en·​dysmorfe·​gelaatskenmerken.​</​Contents>
105189 ············​</​TextSection>105169 ············​</​TextSection>
105190 ··········​</​TextSectionList>105170 ··········​</​TextSectionList>
105191 ········​</​SummaryInformation>105171 ········​</​SummaryInformation>
107086 ··············​<TextSectionType·​id="16907">107066 ··············​<TextSectionType·​id="16907">
107087 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>107067 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
107088 ··············​</​TextSectionType>107068 ··············​</​TextSectionType>
107089 ··············​<Contents>Een·​zeldzame·klinische·​entiteit·met·​cryptoftalmie·en·​syndactylie·als·voornaamste·karakteristieken.​</​Contents>107069 ··············​<Contents>Een·​zeldzame·congenitale·malformatie,​·vooral·gekarakteriseerd·door·unilaterale·of·bilaterale·​cryptoftalmie,​·​syndactylie,​·en·urogenitale·​anomalieën.​</​Contents>
107090 ············​</​TextSection>107070 ············​</​TextSection>
107091 ··········​</​TextSectionList>107071 ··········​</​TextSectionList>
107092 ········​</​SummaryInformation>107072 ········​</​SummaryInformation>
111407 ······​</​ExternalReferenceList​>111387 ······​</​ExternalReferenceList​>
111408 ······​<DisorderDisorderAsso​ciationList·​count="0">111388 ······​<DisorderDisorderAsso​ciationList·​count="0">
111409 ······​</​DisorderDisorderAssoc​iationList>111389 ······​</​DisorderDisorderAssoc​iationList>
111410 ······​<SummaryInformationLi​st·​count="0">111390 ······​<SummaryInformationLi​st·​count="1">
111391 ········​<SummaryInformation·​id="128999"·​lang="nl">
111392 ··········​<TextSectionList·​count="1">
111393 ············​<TextSection·​id="167923"·​lang="nl">
111394 ··············​<TextSectionType·​id="16907">
111395 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
111396 ··············​</​TextSectionType>
111397 ··············​<Contents>Een·​zeldzame·​klassieke·​organische·​acidurie,​·​gekarakteriseerd·​door·​accumulatie·​in·​weefsel·​en·​verhoogde·​excretie·​in·​urine·​van·​3-​hydroxyisoboterzuur.​·​Het·​klinische·​fenotype·​varieert·​van·​recidiverende·​milde·​episodes·​van·​braken·​met·​normale·​cognitieve·​ontwikkeling·​tot·​massale·​acidose,​·​insulten·​en·​niet-​gedijen·​met·​zeer·​ernstige·​intellectuele·​achterstand·​en·​vroeg·​overlijden.​·​Dysmorfe·​craniofaciale·​kenmerken·​(zoals·​microcefalie,​·​driehoekig·​gelaat,​·​kort·​en·​hellend·​voorhoofd,​·​lang·​en·​prominent·​filtrum,​·​en·​micrognathie)​·​en·​variabele·​cerebrale·​anomalieën·​werden·​ook·​reeds·​beschreven.​</​Contents>
111398 ············​</​TextSection>
111399 ··········​</​TextSectionList>
111400 ········​</​SummaryInformation>
111411 ······​</​SummaryInformationLis​t>111401 ······​</​SummaryInformationLis​t>
111412 ····​</​Disorder>111402 ····​</​Disorder>
111413 ····​<Disorder·​id="1259">111403 ····​<Disorder·​id="1259">
115625 ··········​<Value>8192</​Value>115615 ··········​<Value>8192</​Value>
115626 ··········​<Label>Inactive</​Label>115616 ··········​<Label>Inactive</​Label>
115627 ········​</​DisorderFlag>115617 ········​</​DisorderFlag>
115628 ········​<DisorderFlag·​id="461">115618 ········​<DisorderFlag·​id="455">
115629 ··········​<Value>1024</​Value>115619 ··········​<Value>16</​Value>
115630 ··········​<Label>Obsolete·with·resources</​Label>115620 ··········​<Label>Obsolete·​entity</​Label>
115631 ········​</​DisorderFlag>115621 ········​</​DisorderFlag>
115632 ······​</​DisorderFlagList>115622 ······​</​DisorderFlagList>
115633 ······​<SynonymList·​count="0">115623 ······​<SynonymList·​count="0">
120923 ··········​<Label></​Label>120913 ··········​<Label></​Label>
120924 ········​</​DisorderFlag>120914 ········​</​DisorderFlag>
120925 ······​</​DisorderFlagList>120915 ······​</​DisorderFlagList>
120926 ······​<SynonymList·​count="0">120916 ······​<SynonymList·​count="1">
120917 ········​<Synonym·​lang="nl">Acute·​myelitis·​transversa</​Synonym>
120927 ······​</​SynonymList>120918 ······​</​SynonymList>
120928 ······​<DisorderType·​id="21394">120919 ······​<DisorderType·​id="21394">
120929 ········​<Name·​lang="nl">Ziekte</​Name>120920 ········​<Name·​lang="nl">Ziekte</​Name>
125826 ····​<Disorder·​id="1533">125817 ····​<Disorder·​id="1533">
125827 ······​<OrphaCode>1299</​OrphaCode>125818 ······​<OrphaCode>1299</​OrphaCode>
125828 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1299</​ExpertLink>125819 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1299</​ExpertLink>
125829 ······​<Name·​lang="nl">Branchio-​skeleto-​genitaal·​syndroom</​Name>125820 ······​<Name·​lang="nl">Branchioske​letogenitaal·​syndroom</​Name>
125830 ······​<DisorderFlagList·​count="1">125821 ······​<DisorderFlagList·​count="1">
125831 ········​<DisorderFlag·​id="475">125822 ········​<DisorderFlag·​id="475">
125832 ··········​<Value>1</​Value>125823 ··········​<Value>1</​Value>
130256 ····​<Disorder·​id="16715">130247 ····​<Disorder·​id="16715">
130257 ······​<OrphaCode>137776</​OrphaCode>130248 ······​<OrphaCode>137776</​OrphaCode>
130258 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=137776</​ExpertLink>130249 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=137776</​ExpertLink>
130259 ······​<Name·​lang="nl">Letaal·​congenitaal·​contractuursyndroom·​type·​2</​Name>130250 ······​<Name·​lang="nl">Letale·​congenitale·​contracturen-​syndroom·​type·​2</​Name>
130260 ······​<DisorderFlagList·​count="1">130251 ······​<DisorderFlagList·​count="1">
130261 ········​<DisorderFlag·​id="475">130252 ········​<DisorderFlag·​id="475">
130262 ··········​<Value>1</​Value>130253 ··········​<Value>1</​Value>
130265 ······​</​DisorderFlagList>130256 ······​</​DisorderFlagList>
130266 ······​<SynonymList·​count="3">130257 ······​<SynonymList·​count="3">
130267 ········​<Synonym·​lang="nl">LCCS2</​Synonym>130258 ········​<Synonym·​lang="nl">LCCS2</​Synonym>
130268 ········​<Synonym·​lang="nl">Meervoudig·​contractuursyndroom,​·​Israeli-​Bedouin-​type</​Synonym>130259 ········​<Synonym·​lang="nl">Meervoudige​·​contracturen-​syndroom,​·​Israeli-​Bedouin-​type</​Synonym>
130269 ········​<Synonym·​lang="nl">Meervoudig·​contractuursyndroom,​·​Israëlische-​Bedoeïenen-​type</​Synonym>130260 ········​<Synonym·​lang="nl">Meervoudige​·​contracturen-​syndroom,​·​Israëlische-​Bedoeïenen-​type</​Synonym>
130270 ······​</​SynonymList>130261 ······​</​SynonymList>
130271 ······​<DisorderType·​id="21401">130262 ······​<DisorderType·​id="21401">
130272 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>130263 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
130788 ····​<Disorder·​id="16716">130779 ····​<Disorder·​id="16716">
130789 ······​<OrphaCode>137783</​OrphaCode>130780 ······​<OrphaCode>137783</​OrphaCode>
130790 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=137783</​ExpertLink>130781 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=137783</​ExpertLink>
130791 ······​<Name·​lang="nl">Letaal·​congenitaal·​contractuursyndroom·​type·​3</​Name>130782 ······​<Name·​lang="nl">Letale·​congenitale·​contracturen-​syndroom·​type·​3</​Name>
130792 ······​<DisorderFlagList·​count="1">130783 ······​<DisorderFlagList·​count="1">
130793 ········​<DisorderFlag·​id="475">130784 ········​<DisorderFlag·​id="475">
130794 ··········​<Value>1</​Value>130785 ··········​<Value>1</​Value>
131013 ····​<Disorder·​id="1461">131004 ····​<Disorder·​id="1461">
131014 ······​<OrphaCode>1215</​OrphaCode>131005 ······​<OrphaCode>1215</​OrphaCode>
131015 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1215</​ExpertLink>131006 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1215</​ExpertLink>
131016 ······​<Name·​lang="nl">Autosomaal·​dominante·​opticusatrofie-​plus·syndroom</​Name>131007 ······​<Name·​lang="nl">Autosomaal·​dominante·​opticusatrofie·plus-​syndroom</​Name>
131017 ······​<DisorderFlagList·​count="1">131008 ······​<DisorderFlagList·​count="1">
131018 ········​<DisorderFlag·​id="475">131009 ········​<DisorderFlag·​id="475">
131019 ··········​<Value>1</​Value>131010 ··········​<Value>1</​Value>
131020 ··········​<Label></​Label>131011 ··········​<Label></​Label>
131021 ········​</​DisorderFlag>131012 ········​</​DisorderFlag>
131022 ······​</​DisorderFlagList>131013 ······​</​DisorderFlagList>
131023 ······​<SynonymList·​count="4">131014 ······​<SynonymList·​count="3">
131024 ········<Synonym·lang="nl">Autosomaal·dominante·optische·atrofie·plus-​syndroom</​Synonym>
131025 ········​<Synonym·​lang="nl">DOA+</​Synonym>131015 ········​<Synonym·​lang="nl">DOA+</​Synonym>
131026 ········​<Synonym·​lang="nl">Opticusatro​fie·​-​·​doofheid·​-​·​polyneuropathie·​-​·​myopathie-​syndroom</​Synonym>131016 ········​<Synonym·​lang="nl">Opticusatro​fie·​-​·​doofheid·​-​·​polyneuropathie·​-​·​myopathie-​syndroom</​Synonym>
131027 ········​<Synonym·​lang="nl">Optische·atrofie·​-​·doofheid·​-​·​polyneuropathie·​-​·​myopathie-​syndroom</​Synonym>131017 ········​<Synonym·​lang="nl">Opticusatro​fie·​-​·gehoorverlies·​-​·​polyneuropathie·​-​·​myopathie-​syndroom</​Synonym>
131028 ······​</​SynonymList>131018 ······​</​SynonymList>
131029 ······​<DisorderType·​id="21394">131019 ······​<DisorderType·​id="21394">
131030 ········​<Name·​lang="nl">Ziekte</​Name>131020 ········​<Name·​lang="nl">Ziekte</​Name>
133088 ····​<Disorder·​id="16744">133078 ····​<Disorder·​id="16744">
133089 ······​<OrphaCode>137914</​OrphaCode>133079 ······​<OrphaCode>137914</​OrphaCode>
133090 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=137914</​ExpertLink>133080 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=137914</​ExpertLink>
133091 ······​<Name·​lang="nl">Choane·​atresie</​Name>133081 ······​<Name·​lang="nl">Choanale·​atresie</​Name>
133092 ······​<DisorderFlagList·​count="1">133082 ······​<DisorderFlagList·​count="1">
133093 ········​<DisorderFlag·​id="475">133083 ········​<DisorderFlag·​id="475">
133094 ··········​<Value>1</​Value>133084 ··········​<Value>1</​Value>
133097 ······​</​DisorderFlagList>133087 ······​</​DisorderFlagList>
133098 ······​<SynonymList·​count="2">133088 ······​<SynonymList·​count="2">
133099 ········​<Synonym·​lang="nl">Atresia·​choanae</​Synonym>133089 ········​<Synonym·​lang="nl">Atresia·​choanae</​Synonym>
133100 ········​<Synonym·​lang="nl">Choanale·atresie</​Synonym>133090 ········​<Synonym·​lang="nl">Choane-​atresie</​Synonym>
133101 ······​</​SynonymList>133091 ······​</​SynonymList>
133102 ······​<DisorderType·​id="21415">133092 ······​<DisorderType·​id="21415">
133103 ········​<Name·​lang="nl">Morfologisc​he·​anomalie</​Name>133093 ········​<Name·​lang="nl">Morfologisc​he·​anomalie</​Name>
133417 ··············​<TextSectionType·​id="16907">133407 ··············​<TextSectionType·​id="16907">
133418 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>133408 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
133419 ··············​</​TextSectionType>133409 ··············​</​TextSectionType>
133420 ··············​<Contents>Choanale·atresie·-​·doofheid·-​·hartafwijkingen·-​·dysmorfiesyndroom,​·ook·wel·bekend·als·Burn-​McKeownsyndroom,​·is·een·uiterst·zeldzaam·syndroom·met·multipele·aangeboren·afwijkingen·en·wordt·gekenmerkt·​door·​bilaterale·​choanale·​atresie·(zie·deze·term)​·​geassocieerd·​met·een·karakteristieke·​craniofaciale·​dysmorfie·​(hypertelorisme·​met·​smalle·​oogspleten,​·​coloboom·​van·het·​onderste·​ooglid·(zie·deze·term)​·​met·​aanwezigheid·​van·​wimpers·​mediaal·​van·​het·​defect,​·​prominente·​neusbrug,​·​dunne·​lippen,​·​prominente·​oren)​,​·dat·gepaard·kan·gaan·met·​gehoorverlies,​·een·eenzijdige·​gespleten·​lip,​·​preauriculaire·​aanhangsels,​·cardiale·septumdefecten·​en·afwijkingen·van·de·nieren.​·De·kenmerken·van·dit·syndroom·overlappen·sterk·met·die·van·het·CHARGE-​syndroom·(zie·deze·term)​.​</​Contents>133410 ··············​<Contents>Een·zeldzaam·syndroom·met·multipele·​congenitale·anomalieën,​·gekarakteriseerd·​door·​bilaterale·​choanale·​atresie·​geassocieerd·​met·​typische·​craniofaciale·​dysmorfie·​(hypertelorisme·​met·​smalle·​ooglidspleten,​·​coloboom·​van·​onderste·​oogleden·​met·​aanwezigheid·​van·​wimpers·​mediaal·​van·​het·​defect,​·​prominente·​neusbrug,​·​dunne·​lippen,​·​prominente·​oren)​,​·en·mogelijk·vergezeld·van·​gehoorverlies,​·unilateraal·​gespleten·​lip,​·​pre-​auriculaire·​aanhangsels,​·hartseptumdefecten·​en·​nieranomalieën.​·Getroffen·individuen·hebben·​een·normale·intelligentie.​</​Contents>
133421 ············​</​TextSection>133411 ············​</​TextSection>
133422 ··········​</​TextSectionList>133412 ··········​</​TextSectionList>
133423 ········​</​SummaryInformation>133413 ········​</​SummaryInformation>
133639 ····​<Disorder·​id="16749">133629 ····​<Disorder·​id="16749">
133640 ······​<OrphaCode>137929</​OrphaCode>133630 ······​<OrphaCode>137929</​OrphaCode>
133641 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=137929</​ExpertLink>133631 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=137929</​ExpertLink>
133642 ······​<Name·​lang="nl">Neonatale·​disfunctie·​van·de·​hersenstam</​Name>133632 ······​<Name·​lang="nl">Neonatale·​disfunctie·​van·​hersenstam</​Name>
133643 ······​<DisorderFlagList·​count="1">133633 ······​<DisorderFlagList·​count="1">
133644 ········​<DisorderFlag·​id="475">133634 ········​<DisorderFlag·​id="475">
133645 ··········​<Value>1</​Value>133635 ··········​<Value>1</​Value>
135748 ··········​<Label></​Label>135738 ··········​<Label></​Label>
135749 ········​</​DisorderFlag>135739 ········​</​DisorderFlag>
135750 ······​</​DisorderFlagList>135740 ······​</​DisorderFlagList>
135751 ······​<SynonymList·​count="7">135741 ······​<SynonymList·​count="8">
135752 ········​<Synonym·​lang="nl">Diffuse·​lymfangiomatose</​Synonym>135742 ········​<Synonym·​lang="nl">Diffuse·​lymfangiomatose</​Synonym>
135743 ········​<Synonym·​lang="nl">Diffuse·​malformatie·​van·​lymfestelsel</​Synonym>
135753 ········​<Synonym·​lang="nl">Diffuus·​lymfangioom</​Synonym>135744 ········​<Synonym·​lang="nl">Diffuus·​lymfangioom</​Synonym>
135754 ········​<Synonym·​lang="nl">GLA</​Synonym>135745 ········​<Synonym·​lang="nl">GLA</​Synonym>
135755 ········​<Synonym·​lang="nl">Gegeneralis​eerde·​lymfatische·​anomalie</​Synonym>135746 ········​<Synonym·​lang="nl">Gegeneralis​eerde·​lymfatische·​anomalie</​Synonym>
136530 ····​<Disorder·​id="1660">136521 ····​<Disorder·​id="1660">
136531 ······​<OrphaCode>1486</​OrphaCode>136522 ······​<OrphaCode>1486</​OrphaCode>
136532 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1486</​ExpertLink>136523 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1486</​ExpertLink>
136533 ······​<Name·​lang="nl">Letaal·​congenitaal·​contractuursyndroom·​type·​1</​Name>136524 ······​<Name·​lang="nl">Letale·​congenitale·​contracturen-​syndroom·​type·​1</​Name>
136534 ······​<DisorderFlagList·​count="1">136525 ······​<DisorderFlagList·​count="1">
136535 ········​<DisorderFlag·​id="475">136526 ········​<DisorderFlag·​id="475">
136536 ··········​<Value>1</​Value>136527 ··········​<Value>1</​Value>
136539 ······​</​DisorderFlagList>136530 ······​</​DisorderFlagList>
136540 ······​<SynonymList·​count="3">136531 ······​<SynonymList·​count="3">
136541 ········​<Synonym·​lang="nl">LCCS1</​Synonym>136532 ········​<Synonym·​lang="nl">LCCS1</​Synonym>
136542 ········​<Synonym·​lang="nl">Meervoudige​·​contractuursyndroom,​·​Fins·​type</​Synonym>136533 ········​<Synonym·​lang="nl">Meervoudige​·​contracturen-​syndroom,​·​Fins·​type</​Synonym>
136543 ········​<Synonym·​lang="nl">Ziekte·​van·​Herva</​Synonym>136534 ········​<Synonym·​lang="nl">Ziekte·​van·​Herva</​Synonym>
136544 ······​</​SynonymList>136535 ······​</​SynonymList>
136545 ······​<DisorderType·​id="21401">136536 ······​<DisorderType·​id="21401">
139817 ····​<Disorder·​id="17041">139808 ····​<Disorder·​id="17041">
139818 ······​<OrphaCode>141121</​OrphaCode>139809 ······​<OrphaCode>141121</​OrphaCode>
139819 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=141121</​ExpertLink>139810 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=141121</​ExpertLink>
139820 ······​<Name·​lang="nl">Congenitale​·​subglottale·stenose</​Name>139811 ······​<Name·​lang="nl">Congenitale​·​subglottisstenose</​Name>
139821 ······​<DisorderFlagList·​count="1">139812 ······​<DisorderFlagList·​count="1">
139822 ········​<DisorderFlag·​id="475">139813 ········​<DisorderFlag·​id="475">
139823 ··········​<Value>1</​Value>139814 ··········​<Value>1</​Value>
139824 ··········​<Label></​Label>139815 ··········​<Label></​Label>
139825 ········​</​DisorderFlag>139816 ········​</​DisorderFlag>
139826 ······​</​DisorderFlagList>139817 ······​</​DisorderFlagList>
139827 ······​<SynonymList·​count="0">139818 ······​<SynonymList·​count="1">
139819 ········​<Synonym·​lang="nl">Congenitale​·​subglottische·​stenose</​Synonym>
139828 ······​</​SynonymList>139820 ······​</​SynonymList>
139829 ······​<DisorderType·​id="21401">139821 ······​<DisorderType·​id="21401">
139830 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>139822 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
142379 ··········​<Label></​Label>142371 ··········​<Label></​Label>
142380 ········​</​DisorderFlag>142372 ········​</​DisorderFlag>
142381 ······​</​DisorderFlagList>142373 ······​</​DisorderFlagList>
142382 ······​<SynonymList·​count="3">142374 ······​<SynonymList·​count="2">
142383 ········​<Synonym·​lang="nl">Onvolledige​·​situs·​inversus</​Synonym>142375 ········​<Synonym·​lang="nl">Onvolledige​·​situs·​inversus</​Synonym>
142384 ········​<Synonym·​lang="nl">Partiële·​situs·​inversus</​Synonym>142376 ········​<Synonym·​lang="nl">Partiële·​situs·​inversus</​Synonym>
142385 ········​<Synonym·​lang="nl">Situs·​ambiguous</​Synonym>
142386 ······​</​SynonymList>142377 ······​</​SynonymList>
142387 ······​<DisorderType·​id="21415">142378 ······​<DisorderType·​id="21415">
142388 ········​<Name·​lang="nl">Morfologisc​he·​anomalie</​Name>142379 ········​<Name·​lang="nl">Morfologisc​he·​anomalie</​Name>
142520 ········​<DisorderDisorderAsso​ciation>142511 ········​<DisorderDisorderAsso​ciation>
142521 ··········​<TargetDisorder·​id="1533">142512 ··········​<TargetDisorder·​id="1533">
142522 ············​<OrphaCode>1299</​OrphaCode>142513 ············​<OrphaCode>1299</​OrphaCode>
142523 ············​<Name·​lang="nl">Branchio-​skeleto-​genitaal·​syndroom</​Name>142514 ············​<Name·​lang="nl">Branchioske​letogenitaal·​syndroom</​Name>
142524 ··········​</​TargetDisorder>142515 ··········​</​TargetDisorder>
142525 ··········​<RootDisorder·​id="17143"·​cycle="true"/​>142516 ··········​<RootDisorder·​id="17143"·​cycle="true"/​>
142526 ··········​<DisorderDisorderAsso​ciationType·​id="21471">142517 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
151170 ····​<Disorder·​id="16921">151161 ····​<Disorder·​id="16921">
151171 ······​<OrphaCode>139573</​OrphaCode>151162 ······​<OrphaCode>139573</​OrphaCode>
151172 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=139573</​ExpertLink>151163 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=139573</​ExpertLink>
151173 ······​<Name·​lang="nl">Erfelijke·​sensorische·​en·​autonome·​neuropathie·​met·​doofheid·​en·​algemene·​achterstand</​Name>151164 ······​<Name·​lang="nl">Erfelijke·​sensorische·​en·​autonome·​neuropathie·​met·​doofheid·​en·​algehele·​achterstand</​Name>
151174 ······​<DisorderFlagList·​count="1">151165 ······​<DisorderFlagList·​count="1">
151175 ········​<DisorderFlag·​id="475">151166 ········​<DisorderFlag·​id="475">
151176 ··········​<Value>1</​Value>151167 ··········​<Value>1</​Value>
151178 ········​</​DisorderFlag>151169 ········​</​DisorderFlag>
151179 ······​</​DisorderFlagList>151170 ······​</​DisorderFlagList>
151180 ······​<SynonymList·​count="1">151171 ······​<SynonymList·​count="1">
151181 ········​<Synonym·​lang="nl">HSAN·​met·​doofheid·​en·​algemene·​achterstand</​Synonym>151172 ········​<Synonym·​lang="nl">HSAN·​met·​doofheid·​en·​algehele·​achterstand</​Synonym>
151182 ······​</​SynonymList>151173 ······​</​SynonymList>
151183 ······​<DisorderType·​id="21394">151174 ······​<DisorderType·​id="21394">
151184 ········​<Name·​lang="nl">Ziekte</​Name>151175 ········​<Name·​lang="nl">Ziekte</​Name>
153186 ····​<Disorder·​id="17003">153177 ····​<Disorder·​id="17003">
153187 ······​<OrphaCode>140941</​OrphaCode>153178 ······​<OrphaCode>140941</​OrphaCode>
153188 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=140941</​ExpertLink>153179 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=140941</​ExpertLink>
153189 ······​<Name·​lang="nl">Kleine·​gestalte·​door·​primaire·​zuurlabiele·​subeenheiddeficiëntie​</​Name>153180 ······​<Name·​lang="nl">Kleine·​gestalte·​door·​primaire·deficiëntie·van·​zuurlabiele·​subeenheid</​Name>
153190 ······​<DisorderFlagList·​count="1">153181 ······​<DisorderFlagList·​count="1">
153191 ········​<DisorderFlag·​id="475">153182 ········​<DisorderFlag·​id="475">
153192 ··········​<Value>1</​Value>153183 ··········​<Value>1</​Value>
154594 ····​<Disorder·​id="1725">154585 ····​<Disorder·​id="1725">
154595 ······​<OrphaCode>1979</​OrphaCode>154586 ······​<OrphaCode>1979</​OrphaCode>
154596 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1979</​ExpertLink>154587 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=1979</​ExpertLink>
154597 ······​<Name·​lang="nl">Lipodystrof​ie·als·gevolg·van·​deficiëntie·​van·​peptidische·​groeifactoren</​Name>154588 ······​<Name·​lang="nl">Lipodystrof​ie·door·​deficiëntie·​van·​peptidische·​groeifactoren</​Name>
154598 ······​<DisorderFlagList·​count="1">154589 ······​<DisorderFlagList·​count="1">
154599 ········​<DisorderFlag·​id="475">154590 ········​<DisorderFlag·​id="475">
154600 ··········​<Value>1</​Value>154591 ··········​<Value>1</​Value>
154602 ········​</​DisorderFlag>154593 ········​</​DisorderFlag>
154603 ······​</​DisorderFlagList>154594 ······​</​DisorderFlagList>
154604 ······​<SynonymList·​count="3">154595 ······​<SynonymList·​count="3">
154605 ········​<Synonym·​lang="nl">Gecombineer​de·​insuline-​,​·​insuline-​achtige·​groeifactor·​1·​(IGF1)​-​·​en·​epidermale·​groeifactor·​(EGF)​-​deficiëntie</​Synonym>154596 ········​<Synonym·​lang="nl">Gecombineer​de·deficiëntie·van·​insuline,​·​insulineachtige·​groeifactor·​1·​(IGF1)​·​en·​epidermale·​groeifactor·​(EGF)​</​Synonym>
154606 ········​<Synonym·​lang="nl">Syndroom·​van·​Hoepffner-​Dreyer-​Reimers</​Synonym>154597 ········​<Synonym·​lang="nl">Syndroom·​van·​Hoepffner-​Dreyer-​Reimers</​Synonym>
154607 ········​<Synonym·​lang="nl">Werner-​achtig·​syndroom·als·​gevolg·van·gecombineerde·​groeifactordeficiënti​e</​Synonym>154598 ········​<Synonym·​lang="nl">Werner-​achtig·​syndroom·door·​gecombineerde·deficiëntie·van·​groeifactoren</​Synonym>
154608 ······​</​SynonymList>154599 ······​</​SynonymList>
154609 ······​<DisorderType·​id="21394">154600 ······​<DisorderType·​id="21394">
154610 ········​<Name·​lang="nl">Ziekte</​Name>154601 ········​<Name·​lang="nl">Ziekte</​Name>
155820 ······​</​ExternalReferenceList​>155811 ······​</​ExternalReferenceList​>
155821 ······​<DisorderDisorderAsso​ciationList·​count="0">155812 ······​<DisorderDisorderAsso​ciationList·​count="0">
155822 ······​</​DisorderDisorderAssoc​iationList>155813 ······​</​DisorderDisorderAssoc​iationList>
155823 ······​<SummaryInformationLi​st·​count="0">155814 ······​<SummaryInformationLi​st·​count="1">
155815 ········​<SummaryInformation·​id="129135"·​lang="nl">
155816 ··········​<TextSectionList·​count="1">
155817 ············​<TextSection·​id="167988"·​lang="nl">
155818 ··············​<TextSectionType·​id="16907">
155819 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
155820 ··············​</​TextSectionType>
155821 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​syndroom·​met·​multipele·​congenitale·​anomalieën/​dysmorfie,​·​gekarakteriseerd·​door·​psychomotorische·​achterstand,​·​groeiachterstand,​·​ernstige·​intellectuele·​achterstand,​·​microcefalie,​·​en·​hypoplastisch·​corpus·​callosum.​·​Bijkomende·​manifestaties·​die·​werden·​gerapporteerd,​·​zijn·​onder·​meer·​verhoogde·​spiertonus,​·​insulten,​·​hartanomalieën,​·​recidiverende·​bronchopneumonie,​·​camptodactylie,​·​pre-​auriculair·​aanhangsel,​·​en·​dysmorfe·​gelaatskenmerken·​(zoals·​breed·​voorhoofd,​·​hypertelorisme,​·​platte·​neusbrug,​·​anteversie·​van·​de·​neusgaten,​·​en·​prominente·​oren)​.​</​Contents>
155822 ············​</​TextSection>
155823 ··········​</​TextSectionList>
155824 ········​</​SummaryInformation>
155824 ······​</​SummaryInformationLis​t>155825 ······​</​SummaryInformationLis​t>
155825 ····​</​Disorder>155826 ····​</​Disorder>
155826 ····​<Disorder·​id="16963">155827 ····​<Disorder·​id="16963">
155891 ······​</​ExternalReferenceList​>155892 ······​</​ExternalReferenceList​>
155892 ······​<DisorderDisorderAsso​ciationList·​count="0">155893 ······​<DisorderDisorderAsso​ciationList·​count="0">
155893 ······​</​DisorderDisorderAssoc​iationList>155894 ······​</​DisorderDisorderAssoc​iationList>
155894 ······​<SummaryInformationLi​st·​count="1">155895 ······​<SummaryInformationLi​st·​count="0">
155895 ········<SummaryInformation·id="-​1"·lang="nl">
155896 ··········<TextSectionList·count="0">
155897 ··········</​TextSectionList>
155898 ··········<TextAuto>
155899 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
155900 ··········</​TextAuto>
155901 ········</​SummaryInformation>
155902 ······​</​SummaryInformationLis​t>155896 ······​</​SummaryInformationLis​t>
155903 ····​</​Disorder>155897 ····​</​Disorder>
155904 ····​<Disorder·​id="1676">155898 ····​<Disorder·​id="1676">
156007 ··········​<Label></​Label>156001 ··········​<Label></​Label>
156008 ········​</​DisorderFlag>156002 ········​</​DisorderFlag>
156009 ······​</​DisorderFlagList>156003 ······​</​DisorderFlagList>
156010 ······​<SynonymList·​count="2">156004 ······​<SynonymList·​count="1">
156011 ········<Synonym·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie</​Synonym>
156012 ········​<Synonym·​lang="nl">HSAN</​Synonym>156005 ········​<Synonym·​lang="nl">HSAN</​Synonym>
156013 ······​</​SynonymList>156006 ······​</​SynonymList>
156014 ······​<DisorderType·​id="21436">156007 ······​<DisorderType·​id="21436">
156572 ······​</​ExternalReferenceList​>156565 ······​</​ExternalReferenceList​>
156573 ······​<DisorderDisorderAsso​ciationList·​count="0">156566 ······​<DisorderDisorderAsso​ciationList·​count="0">
156574 ······​</​DisorderDisorderAssoc​iationList>156567 ······​</​DisorderDisorderAssoc​iationList>
156575 ······​<SummaryInformationLi​st·​count="1">156568 ······​<SummaryInformationLi​st·​count="0">
156576 ········<SummaryInformation·id="-​1"·lang="nl">
156577 ··········<TextSectionList·count="0">
156578 ··········</​TextSectionList>
156579 ··········<TextAuto>
156580 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
156581 ··········</​TextAuto>
156582 ········</​SummaryInformation>
156583 ······​</​SummaryInformationLis​t>156569 ······​</​SummaryInformationLis​t>
156584 ····​</​Disorder>156570 ····​</​Disorder>
156585 ····​<Disorder·​id="1674">156571 ····​<Disorder·​id="1674">
157126 ····​<Disorder·​id="16976">157112 ····​<Disorder·​id="16976">
157127 ······​<OrphaCode>140481</​OrphaCode>157113 ······​<OrphaCode>140481</​OrphaCode>
157128 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=140481</​ExpertLink>157114 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=140481</​ExpertLink>
157129 ······​<Name·​lang="nl">Autosomaal·​dominant·​vertraagde·​zenuwgeleidingssnelhe​id</​Name>157115 ······​<Name·​lang="nl">Autosomaal·​dominante·​vertraagde·​zenuwgeleidingssnelhe​id</​Name>
157130 ······​<DisorderFlagList·​count="1">157116 ······​<DisorderFlagList·​count="1">
157131 ········​<DisorderFlag·​id="475">157117 ········​<DisorderFlag·​id="475">
157132 ··········​<Value>1</​Value>157118 ··········​<Value>1</​Value>
159429 ··············​<TextSectionType·​id="16907">159415 ··············​<TextSectionType·​id="16907">
159430 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>159416 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
159431 ··············​</​TextSectionType>159417 ··············​</​TextSectionType>
159432 ··············​<Contents>Een·​zeldzame·​stoornis·​van·​het·fenylalaninemetabolis​me,​·​een·​aangeboren·​defect·​van·​het·​aminozuurmetabolisme,​·​gekarakteriseerd·​door·​de·​ontwikkeling·​van·​microcefalie,​·​groeiretardatie,​·​congenitale·​hartziekte,​·​faciale·​dysmorfie·​en·​intellectuele·​achterstand·​bij·​nakomelingen·​zonder·​fenylketonurie·​van·​moeders·​met·​overmatige·fenylalanine·(Phe)​-​concentraties.​</​Contents>159418 ··············​<Contents>Een·​zeldzame·​stoornis·​van·​het·metabolisme·van·fenylalanine·(Phe)​,​·​een·​aangeboren·​defect·​van·​het·​aminozuurmetabolisme,​·​gekarakteriseerd·​door·​de·​ontwikkeling·​van·​microcefalie,​·​groeiretardatie,​·​congenitale·​hartziekte,​·​faciale·​dysmorfie·​en·​intellectuele·​achterstand·​bij·​nakomelingen·​zonder·​fenylketonurie·​van·​moeders·​met·​overmatige·Phe-​concentraties·in·het·bloed.​</​Contents>
159433 ············​</​TextSection>159419 ············​</​TextSection>
159434 ··········​</​TextSectionList>159420 ··········​</​TextSectionList>
159435 ········​</​SummaryInformation>159421 ········​</​SummaryInformation>
167080 ··············​<TextSectionType·​id="16907">167066 ··············​<TextSectionType·​id="16907">
167081 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>167067 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
167082 ··············​</​TextSectionType>167068 ··············​</​TextSectionType>
167083 ··············​<Contents>Syndroom·van·Hartsfield·is·een·​zeldzaam,​·​genetisch·malformatiesyndroom·​met·een·ontwikkelingsdefect·tijdens·de·embryogenese,​·en·wordt·​gekarakteriseerd·​door·de·associatie·van·​variabele·gradaties·​van·​holoprosencefalie·en·uni-​·of·bilaterale·ectrodactylie·van·de·handen·en/​of·voeten.​·Bijkomende·variabele·kenmerken·kunnen·geassocieerd·zijn,​·waaronder·faciale·dysmorfie·(e.​g.​·hypertelorisme,​·korte·en·bolle·neus,​·lang·filtrum,​·dysplastische/​laagstaande·oren,​·​gespleten·​lip·en·verhemelte,​·tentvormige·bovenlip)​,​·​andere·hersenmalformaties·(zoals·agenesie·van·het·corpus·callosum,​·afwezig·septum·pellucidum,​·afwezige·bulbi·olfactorii·(reukkolven)​·/​·tracti·olfactorii·(reukbanen)​,​·hypoplasie·​van·de·vermis)​,​·hypofyse-​gerelateerde·​endocriene·stoornissen·(e.​g.​·centrale·diabetes·insipidus,​·hypogonadotroop·hypogonadisme)​·en·disfunctie·van·de·hypothalamus.​</​Contents>167069 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​syndroom·​met·multipele·congenitale·anomalieën,​·​gekarakteriseerd·​door·​variabele·expressie·​van·het·​holoprosencefalie·(HPE)​-​spectrum·​in·​associatie·​met·​ectrodactylie,​·​gespleten·​lip/​gehemelte,​·​en/​of·​andere·​ectodermale·​anomalieën.​·Ontwikkelingsachterst​and·met·variabele·gradaties·​van·​ernst·en·​endocriene·afwijkingen·zijn·vaak·​geassocieerd.​</​Contents>
167084 ············​</​TextSection>167070 ············​</​TextSection>
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167353 ····​<Disorder·​id="17171">167339 ····​<Disorder·​id="17171">
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167356 ······​<Name·​lang="nl">Goedaardige​·​cefalische·​histiocytose</​Name>167342 ······​<Name·​lang="nl">Benigne·​cefale·​histiocytose</​Name>
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167523 ··············​<Contents>Een·​zeldzame·​niet-​Langerhanscel·​histiocytose,​·​gekarakteriseerd·​door·​snelle·​aanvang·​van·​groepjes·​asymptomatische·​kleine·​rode·​tot·​bruine·​papels,​·​doorgaans·​symmetrisch·​verdeeld·​over·​aangezicht,​·​romp,​·​en·​proximale·​ledematen,​·​occasioneel·​met·​betrokkenheid·​van·​slijmvlies.​·​De·​laesies·​verdwijnen·​spontaan·​zonder·​littekenvorming·​na·​een·​variabele·​tijdspanne·​en·​keren·​in·​de·​meeste·​gevallen·​niet·​terug.​·​Histopathologie·​toont·​diffuse,​·​uniforme·​dermale·​infiltratie·​met·​niet-​xanthomateuze·​histiocyten·​die·​positief·​kleuren·​voor·​CD68·​en·​Ki-​M1p.​·​Soms·​kunnen·​multinucleaire·​reuscellen·​aangetroffen·​worden.​</​Contents>
167524 ············​</​TextSection>
167525 ··········​</​TextSectionList>
167526 ········​</​SummaryInformation>
167531 ······​</​SummaryInformationLis​t>167527 ······​</​SummaryInformationLis​t>
167532 ····​</​Disorder>167528 ····​</​Disorder>
167533 ····​<Disorder·​id="2003">167529 ····​<Disorder·​id="2003">
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167694 ····​<Disorder·​id="2000">167683 ····​<Disorder·​id="2000">
168307 ····​<Disorder·​id="17179">168296 ····​<Disorder·​id="17179">
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168310 ······​<Name·​lang="nl">Erfelijke·​progressieve·​mucineuze·​histiocytose</​Name>168299 ······​<Name·​lang="nl">Hereditaire​·​progressieve·​mucineuze·​histiocytose</​Name>
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168879 ····​<Disorder·​id="2014">168861 ····​<Disorder·​id="2014">
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169027 ····​<Disorder·​id="2015">169002 ····​<Disorder·​id="2015">
171169 ··············​<TextSectionType·​id="16907">171144 ··············​<TextSectionType·​id="16907">
171170 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>171145 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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171172 ··············​<Contents>Een·zeldzaam·subtype·​van·​spondylodysplastisch·​syndroom·​van·​Ehlers-​Danlos·​(EDS)​·gekarakteriseerd·​door·de·aanwezigheid·van·klassieke·cutane·kenmerken·van·EDS·(i.​e.​·hyperelastische,​·zachte,​·deegachtige,​·​dunne,​·doorschijnende·​huid·met·atrofische·littekenvorming)​·geassocieerd·met·kleine·​gestalte·(progressief·in·de·kindertijd)​,​·uitpuilende·ogen·met·blauwig·​oogwit,​·excessief·gerimpelde·handpalmen,​·hypotrofische·spieren·van·de·duimmuis,​·spitse·​vingers,​·en·hypermobiele·distale·gewrichten·met·neiging·tot·contracturen,​·als·​gevolg·van·​mutaties·in·het·gen·&lt;​i&gt;​SLC39A13&lt;​/​i&gt;​.​·Kenmerkende·radiologische·​bevindingen·omvatten·platyspondylie,​·osteopenie·(voornamelijk·in·de·wervels)​,​·verbrede·metafysen·(elleboog,​·pols,​·interfalangen)​,​·latte·epifysen·(femurhals·en·korte·pijpbeenderen)​,​·en·kleine,​·brede·darmbeenderen.​</​Contents>171147 ··············​<Contents>Een·vorm·​van·​spondylodysplastisch·​syndroom·​van·​Ehlers-​Danlos·​(EDS)​·​door·varianten·in·het·gen·&lt;​i&gt;​SLC39A13&lt;​/​i&gt;​,​·gekarakteriseerd·door·de·​aanwezigheid·van·​dunne·en·fijn·gerimpelde·​huid·​op·handen·en·voeten,​·hypermobiele·distale·​gewrichten,​·typische·gelaatskenmerken·(schuin·naar·beneden·hellende·​ooglidspleten,​·mild·hypertelorisme,​·​prominente·ogen·en·weinig·periorbitaal·​vet,​·blauwachtige·sclerae,​·en·microdontie·of·oligodontie)​,​·spierhypotonie,​·​geassocieerd·​met·significant·kleine·gestalte·met·aanvang·in·de·kindertijd,​·oculaire·​bevindingen·(myopie·en·keratoconus)​,​·en,​·in·zeldzamere·gevallen,​·vasculaire·complicaties.​·Er·werden·milde·radiografische·veranderingen·geobserveerd,​·waarvan·platyspondylie·een·​nuttig·diagnostisch·kenmerk·is.​</​Contents>
171173 ············​</​TextSection>171148 ············​</​TextSection>
171174 ··········​</​TextSectionList>171149 ··········​</​TextSectionList>
171175 ········​</​SummaryInformation>171150 ········​</​SummaryInformation>
175755 ········​</​DisorderFlag>175730 ········​</​DisorderFlag>
175756 ······​</​DisorderFlagList>175731 ······​</​DisorderFlagList>
175757 ······​<SynonymList·​count="7">175732 ······​<SynonymList·​count="7">
175758 ········​<Synonym·​lang="nl">BCD-​syndroom</​Synonym>175733 ········​<Synonym·​lang="nl">BCD·syndroom</​Synonym>
175759 ········​<Synonym·​lang="nl">Blefarochei​lodontisch·​syndroom</​Synonym>175734 ········​<Synonym·​lang="nl">Blefarochei​lodontisch·​syndroom</​Synonym>
175760 ········​<Synonym·​lang="nl">Ectropion·​inferior·​-​·​gespleten·​lip·​en/​of·​verhemelte-​syndroom</​Synonym>175735 ········​<Synonym·​lang="nl">Ectropion·​inferior·​-​·​gespleten·​lip·​en/​of·​verhemelte-​syndroom</​Synonym>
175761 ········​<Synonym·​lang="nl">Lagoftalmie​·​-​·​gespleten·​lip·​en·​verhemelte-​syndroom</​Synonym>175736 ········​<Synonym·​lang="nl">Lagoftalmie​·​-​·​gespleten·​lip·​en·​verhemelte-​syndroom</​Synonym>
175848 ··············​<TextSectionType·​id="16907">175823 ··············​<TextSectionType·​id="16907">
175849 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>175824 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
175850 ··············​</​TextSectionType>175825 ··············​</​TextSectionType>
175851 ··············​<Contents>Blefaro-​cheilo-​odontisch·​syndroom·is·een·​ectodermale·​dysplasiesyndroom,​·gekenmerkt·​door·​de·​associatie·​van·​afwijkingen·​van·de·​oogleden,​·​lippen·​en·​tanden.​</​Contents>175826 ··············​<Contents>Een·zeldzaam·​syndroom·van·​ectodermale·​dysplasie,​·gekarakteriseerd·​door·​de·​associatie·​van·ectropion·van·onderste·ooglid,​·distichiasis·​van·bovenste·​ooglid,​·euryblefaron,​·bilateraal·gespleten·​lip·en·gehemelte,​·​en·kegelvormige·​tanden.​</​Contents>
175852 ············​</​TextSection>175827 ············​</​TextSection>
175853 ··········​</​TextSectionList>175828 ··········​</​TextSectionList>
175854 ········​</​SummaryInformation>175829 ········​</​SummaryInformation>
177568 ····​<Disorder·​id="19540">177543 ····​<Disorder·​id="19540">
177569 ······​<OrphaCode>247718</​OrphaCode>177544 ······​<OrphaCode>247718</​OrphaCode>
177570 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=247718</​ExpertLink>177545 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=247718</​ExpertLink>
177571 ······​<Name·​lang="nl">Inflammatoi​re·​myopathie·​met·overvloedige·​macrofagen</​Name>177546 ······​<Name·​lang="nl">Inflammatoi​re·​myopathie·​met·abundante·​macrofagen</​Name>
177572 ······​<DisorderFlagList·​count="1">177547 ······​<DisorderFlagList·​count="1">
177573 ········​<DisorderFlag·​id="475">177548 ········​<DisorderFlag·​id="475">
177574 ··········​<Value>1</​Value>177549 ··········​<Value>1</​Value>
177919 ······​</​DisorderFlagList>177894 ······​</​DisorderFlagList>
177920 ······​<SynonymList·​count="5">177895 ······​<SynonymList·​count="5">
177921 ········​<Synonym·​lang="nl">CTLN2</​Synonym>177896 ········​<Synonym·​lang="nl">CTLN2</​Synonym>
177922 ········​<Synonym·​lang="nl">Citrinedefi​ciëntie,​·​aanvang·​op·​volwassen·​leeftijd</​Synonym>177897 ········​<Synonym·​lang="nl">Citrinedefi​ciëntie·met·​aanvang·​op·​volwassen·​leeftijd</​Synonym>
177923 ········​<Synonym·​lang="nl">Citrullinem​ie·​type·​2</​Synonym>177898 ········​<Synonym·​lang="nl">Citrullinem​ie·​type·​2</​Synonym>
177924 ········​<Synonym·​lang="nl">Citrullinem​ie·​type·​2,​·​aanvang·​op·​volwassen·​leeftijd</​Synonym>177899 ········​<Synonym·​lang="nl">Citrullinem​ie·​type·​2·met·​aanvang·​op·​volwassen·​leeftijd</​Synonym>
177925 ········​<Synonym·​lang="nl">Citrullinem​ie·​type·​II,​·​aanvang·​op·​volwassen·​leeftijd</​Synonym>177900 ········​<Synonym·​lang="nl">Citrullinem​ie·​type·​II·met·​aanvang·​op·​volwassen·​leeftijd</​Synonym>
177926 ······​</​SynonymList>177901 ······​</​SynonymList>
177927 ······​<DisorderType·​id="21394">177902 ······​<DisorderType·​id="21394">
177928 ········​<Name·​lang="nl">Ziekte</​Name>177903 ········​<Name·​lang="nl">Ziekte</​Name>
178089 ····​<Disorder·​id="19529">178064 ····​<Disorder·​id="19529">
178090 ······​<OrphaCode>247598</​OrphaCode>178065 ······​<OrphaCode>247598</​OrphaCode>
178091 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=247598</​ExpertLink>178066 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=247598</​ExpertLink>
178092 ······​<Name·​lang="nl">Neonatale·​intrahepatische·​cholestase·​door·​citrinedeficiëntie</​Name>178067 ······​<Name·​lang="nl">Neonatale·​intrahepatische·​cholestase·​door·deficiëntie·van·citrine</​Name>
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180427 ······​<DisorderDisorderAsso​ciationList·​count="0">180402 ······​<DisorderDisorderAsso​ciationList·​count="0">
180428 ······​</​DisorderDisorderAssoc​iationList>180403 ······​</​DisorderDisorderAssoc​iationList>
180429 ······​<SummaryInformationLi​st·​count="1">180404 ······​<SummaryInformationLi​st·​count="0">
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180439 ····​<Disorder·​id="2233">180407 ····​<Disorder·​id="2233">
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180986 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
180987 ··········</​TextAuto>
180988 ········</​SummaryInformation>
180989 ······​</​SummaryInformationLis​t>180950 ······​</​SummaryInformationLis​t>
180990 ····​</​Disorder>180951 ····​</​Disorder>
180991 ····​<Disorder·​id="2227">180952 ····​<Disorder·​id="2227">
181280 ······​</​ExternalReferenceList​>181241 ······​</​ExternalReferenceList​>
181281 ······​<DisorderDisorderAsso​ciationList·​count="0">181242 ······​<DisorderDisorderAsso​ciationList·​count="0">
181282 ······​</​DisorderDisorderAssoc​iationList>181243 ······​</​DisorderDisorderAssoc​iationList>
181283 ······​<SummaryInformationLi​st·​count="1">181244 ······​<SummaryInformationLi​st·​count="0">
181284 ········<SummaryInformation·id="-​1"·lang="nl">
181285 ··········<TextSectionList·count="0">
181286 ··········</​TextSectionList>
181287 ··········<TextAuto>
181288 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
181289 ··········</​TextAuto>
181290 ········</​SummaryInformation>
181291 ······​</​SummaryInformationLis​t>181245 ······​</​SummaryInformationLis​t>
181292 ····​</​Disorder>181246 ····​</​Disorder>
181293 ····​<Disorder·​id="19574">181247 ····​<Disorder·​id="19574">
181312 ······​</​ExternalReferenceList​>181266 ······​</​ExternalReferenceList​>
181313 ······​<DisorderDisorderAsso​ciationList·​count="0">181267 ······​<DisorderDisorderAsso​ciationList·​count="0">
181314 ······​</​DisorderDisorderAssoc​iationList>181268 ······​</​DisorderDisorderAssoc​iationList>
181315 ······​<SummaryInformationLi​st·​count="1">181269 ······​<SummaryInformationLi​st·​count="0">
181316 ········<SummaryInformation·id="-​1"·lang="nl">
181317 ··········<TextSectionList·count="0">
181318 ··········</​TextSectionList>
181319 ··········<TextAuto>
181320 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
181321 ··········</​TextAuto>
181322 ········</​SummaryInformation>
181323 ······​</​SummaryInformationLis​t>181270 ······​</​SummaryInformationLis​t>
181324 ····​</​Disorder>181271 ····​</​Disorder>
181325 ····​<Disorder·​id="19573">181272 ····​<Disorder·​id="19573">
182457 ··········​<Label></​Label>182404 ··········​<Label></​Label>
182458 ········​</​DisorderFlag>182405 ········​</​DisorderFlag>
182459 ······​</​DisorderFlagList>182406 ······​</​DisorderFlagList>
182460 ······​<SynonymList·​count="2">182407 ······​<SynonymList·​count="3">
182461 ········​<Synonym·​lang="nl">'Body-​stalk'-​anomalie</​Synonym>182408 ········​<Synonym·​lang="nl">'Body-​stalk'-​anomalie</​Synonym>
182409 ········​<Synonym·​lang="nl">'Limb·​body·​wall'-​complex</​Synonym>
182462 ········​<Synonym·​lang="nl">LBWC-​syndroom</​Synonym>182410 ········​<Synonym·​lang="nl">LBWC-​syndroom</​Synonym>
182463 ······​</​SynonymList>182411 ······​</​SynonymList>
182464 ······​<DisorderType·​id="21401">182412 ······​<DisorderType·​id="21401">
182923 ······​</​ExternalReferenceList​>182871 ······​</​ExternalReferenceList​>
182924 ······​<DisorderDisorderAsso​ciationList·​count="0">182872 ······​<DisorderDisorderAsso​ciationList·​count="0">
182925 ······​</​DisorderDisorderAssoc​iationList>182873 ······​</​DisorderDisorderAssoc​iationList>
182926 ······​<SummaryInformationLi​st·​count="0">182874 ······​<SummaryInformationLi​st·​count="1">
182875 ········​<SummaryInformation·​id="129132"·​lang="nl">
182876 ··········​<TextSectionList·​count="1">
182877 ············​<TextSection·​id="167985"·​lang="nl">
182878 ··············​<TextSectionType·​id="16907">
182879 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
182880 ··············​</​TextSectionType>
182881 ··············​<Contents>Een·​zeldzame·​X-​gebonden·​syndromale·​intellectuele·​achterstand,​·​gekarakteriseerd·​door·​congenitale·​en·​permanente·​stembandverlamming·​die·​ernstige·​congenitale·​stridor·​van·​larynx·​veroorzaakt,​·​geassocieerd·​met·​intellectuele·​achterstand·​bij·​mannelijke·​patiënten.​·​Mogelijke·​andere·​presenterende·​symptomen·​zijn·​onder·​meer·​een·​zwakke·​kreet,​·​hoest,​·​cyanose,​·​neonatale·​asfyxie,​·​voedingsproblemen,​·​aspiratie,​·​en·​bronchiëctasie.​·​Microcefalie,​·​toonafwijkingen,​·​visuele·​stoornissen·​en·​slechthorendheid·​kunnen·​ook·​geassocieerde·​kenmerken·​zijn.​</​Contents>
182882 ············​</​TextSection>
182883 ··········​</​TextSectionList>
182884 ········​</​SummaryInformation>
182927 ······​</​SummaryInformationLis​t>182885 ······​</​SummaryInformationLis​t>
182928 ····​</​Disorder>182886 ····​</​Disorder>
182929 ····​<Disorder·​id="19557">182887 ····​<Disorder·​id="19557">
183490 ····​<Disorder·​id="19476">183448 ····​<Disorder·​id="19476">
183491 ······​<OrphaCode>244283</​OrphaCode>183449 ······​<OrphaCode>244283</​OrphaCode>
183492 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=244283</​ExpertLink>183450 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=244283</​ExpertLink>
183493 ······​<Name·​lang="nl">Galatresie·met·​miltmalformatiesyndro​om</​Name>183451 ······​<Name·​lang="nl">Atresie·van·galwegen·​met·malformatie·van·milt-​syndroom</​Name>
183494 ······​<DisorderFlagList·​count="1">183452 ······​<DisorderFlagList·​count="1">
183495 ········​<DisorderFlag·​id="475">183453 ········​<DisorderFlag·​id="475">
183496 ··········​<Value>1</​Value>183454 ··········​<Value>1</​Value>
186945 ······​</​ExternalReferenceList​>186903 ······​</​ExternalReferenceList​>
186946 ······​<DisorderDisorderAsso​ciationList·​count="0">186904 ······​<DisorderDisorderAsso​ciationList·​count="0">
186947 ······​</​DisorderDisorderAssoc​iationList>186905 ······​</​DisorderDisorderAssoc​iationList>
186948 ······​<SummaryInformationLi​st·​count="0">186906 ······​<SummaryInformationLi​st·​count="1">
186907 ········​<SummaryInformation·​id="129160"·​lang="nl">
186908 ··········​<TextSectionList·​count="1">
186909 ············​<TextSection·​id="168144"·​lang="nl">
186910 ··············​<TextSectionType·​id="16907">
186911 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
186912 ··············​</​TextSectionType>
186913 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​syndroom·​met·​multipele·​congenitale·​anomalieën,​·​gekarakteriseerd·​door·​abnormale·​botmaturatie·​met·​skeletanomalieën,​·​obstructies·​van·​luchtwegen,​·​niet-​gedijen,​·​ontwikkelingsachterst​and,​·​matige·​tot·​ernstige·​intellectuele·​achterstand,​·​en·​typische·​gelaatskenmerken·​met·​macrocefalie,​·​prominent·​voorhoofd,​·​ondiepe·​oogkassen,​·​proptosis,​·​en·​blauwe·​sclerae.​</​Contents>
186914 ············​</​TextSection>
186915 ··········​</​TextSectionList>
186916 ········​</​SummaryInformation>
186949 ······​</​SummaryInformationLis​t>186917 ······​</​SummaryInformationLis​t>
186950 ····​</​Disorder>186918 ····​</​Disorder>
186951 ····​<Disorder·​id="2278">186919 ····​<Disorder·​id="2278">
187177 ········​</​DisorderFlag>187145 ········​</​DisorderFlag>
187178 ······​</​DisorderFlagList>187146 ······​</​DisorderFlagList>
187179 ······​<SynonymList·​count="2">187147 ······​<SynonymList·​count="2">
187180 ········​<Synonym·​lang="nl">Marfanoïd·​craniosynostosesyndro​om</​Synonym>187148 ········​<Synonym·​lang="nl">Marfanoïde·​craniosynostose-​syndroom</​Synonym>
187181 ········​<Synonym·​lang="nl">SGS</​Synonym>187149 ········​<Synonym·​lang="nl">SGS</​Synonym>
187182 ······​</​SynonymList>187150 ······​</​SynonymList>
187183 ······​<DisorderType·​id="21401">187151 ······​<DisorderType·​id="21401">
188044 ······​</​ExternalReferenceList​>188012 ······​</​ExternalReferenceList​>
188045 ······​<DisorderDisorderAsso​ciationList·​count="0">188013 ······​<DisorderDisorderAsso​ciationList·​count="0">
188046 ······​</​DisorderDisorderAssoc​iationList>188014 ······​</​DisorderDisorderAssoc​iationList>
188047 ······​<SummaryInformationLi​st·​count="1">188015 ······​<SummaryInformationLi​st·​count="0">
188048 ········<SummaryInformation·id="-​1"·lang="nl">
188049 ··········<TextSectionList·count="0">
188050 ··········</​TextSectionList>
188051 ··········<TextAuto>
188052 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
188053 ··········</​TextAuto>
188054 ········</​SummaryInformation>
188055 ······​</​SummaryInformationLis​t>188016 ······​</​SummaryInformationLis​t>
188056 ····​</​Disorder>188017 ····​</​Disorder>
188057 ····​<Disorder·​id="2071">188018 ····​<Disorder·​id="2071">
188464 ······​</​ExternalReferenceList​>188425 ······​</​ExternalReferenceList​>
188465 ······​<DisorderDisorderAsso​ciationList·​count="0">188426 ······​<DisorderDisorderAsso​ciationList·​count="0">
188466 ······​</​DisorderDisorderAssoc​iationList>188427 ······​</​DisorderDisorderAssoc​iationList>
188467 ······​<SummaryInformationLi​st·​count="1">188428 ······​<SummaryInformationLi​st·​count="0">
188468 ········<SummaryInformation·id="-​1"·lang="nl">
188469 ··········<TextSectionList·count="0">
188470 ··········</​TextSectionList>
188471 ··········<TextAuto>
188472 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
188473 ··········</​TextAuto>
188474 ········</​SummaryInformation>
188475 ······​</​SummaryInformationLis​t>188429 ······​</​SummaryInformationLis​t>
188476 ····​</​Disorder>188430 ····​</​Disorder>
188477 ····​<Disorder·​id="19674">188431 ····​<Disorder·​id="19674">
189141 ······​</​ExternalReferenceList​>189095 ······​</​ExternalReferenceList​>
189142 ······​<DisorderDisorderAsso​ciationList·​count="0">189096 ······​<DisorderDisorderAsso​ciationList·​count="0">
189143 ······​</​DisorderDisorderAssoc​iationList>189097 ······​</​DisorderDisorderAssoc​iationList>
189144 ······​<SummaryInformationLi​st·​count="1">189098 ······​<SummaryInformationLi​st·​count="0">
189145 ········<SummaryInformation·id="-​1"·lang="nl">
189146 ··········<TextSectionList·count="0">
189147 ··········</​TextSectionList>
189148 ··········<TextAuto>
189149 ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.​·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.​</​Info>
189150 ··········</​TextAuto>
189151 ········</​SummaryInformation>
189152 ······​</​SummaryInformationLis​t>189099 ······​</​SummaryInformationLis​t>
189153 ····​</​Disorder>189100 ····​</​Disorder>
189154 ····​<Disorder·​id="19648">189101 ····​<Disorder·​id="19648">
189173 ······​</​ExternalReferenceList​>189120 ······​</​ExternalReferenceList​>
189174 ······​<DisorderDisorderAsso​ciationList·​count="0">189121 ······​<DisorderDisorderAsso​ciationList·​count="0">
189175 ······​</​DisorderDisorderAssoc​iationList>189122 ······​</​DisorderDisorderAssoc​iationList>
189176 ······​<SummaryInformationLi​st·​count="1">189123 ······​<SummaryInformationLi​st·​count="0">
189177 ········<SummaryInformation·id="-​1"·lang="nl">
189178 ··········<TextSectionList·count="0">
189179 ··········</​TextSectionList>
189180 ··········<TextAuto>
189181 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
189182 ··········</​TextAuto>
189183 ········</​SummaryInformation>
189184 ······​</​SummaryInformationLis​t>189124 ······​</​SummaryInformationLis​t>
189185 ····​</​Disorder>189125 ····​</​Disorder>
189186 ····​<Disorder·​id="2050">189126 ····​<Disorder·​id="2050">
189636 ······​</​ExternalReferenceList​>189576 ······​</​ExternalReferenceList​>
189637 ······​<DisorderDisorderAsso​ciationList·​count="0">189577 ······​<DisorderDisorderAsso​ciationList·​count="0">
189638 ······​</​DisorderDisorderAssoc​iationList>189578 ······​</​DisorderDisorderAssoc​iationList>
189639 ······​<SummaryInformationLi​st·​count="1">189579 ······​<SummaryInformationLi​st·​count="0">
189640 ········<SummaryInformation·id="-​1"·lang="nl">
189641 ··········<TextSectionList·count="0">
189642 ··········</​TextSectionList>
189643 ··········<TextAuto>
189644 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
189645 ··········</​TextAuto>
189646 ········</​SummaryInformation>
189647 ······​</​SummaryInformationLis​t>189580 ······​</​SummaryInformationLis​t>
189648 ····​</​Disorder>189581 ····​</​Disorder>
189649 ····​<Disorder·​id="19652">189582 ····​<Disorder·​id="19652">
195633 ··········​<TargetDisorder·​id="2130"·​cycle="true"/​>195566 ··········​<TargetDisorder·​id="2130"·​cycle="true"/​>
195634 ··········​<RootDisorder·​id="500">195567 ··········​<RootDisorder·​id="500">
195635 ············​<OrphaCode>2113</​OrphaCode>195568 ············​<OrphaCode>2113</​OrphaCode>
195636 ············​<Name·​lang="nl">Congenitaal​·​hypothalamisch·hamartoomsyndroom</​Name>195569 ············​<Name·​lang="nl">Congenitaal​·​hamartoom·van·hypothalamus-​syndroom</​Name>
195637 ··········​</​RootDisorder>195570 ··········​</​RootDisorder>
195638 ··········​<DisorderDisorderAsso​ciationType·​id="21471">195571 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
195639 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>195572 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>
201606 ····​<Disorder·​id="2153">201539 ····​<Disorder·​id="2153">
201607 ······​<OrphaCode>2286</​OrphaCode>201540 ······​<OrphaCode>2286</​OrphaCode>
201608 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2286</​ExpertLink>201541 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2286</​ExpertLink>
201609 ······​<Name·​lang="nl">OBSOLEET:​·​Solitaire·​mediaan-​maxillaire·​centrale·snijtand-​syndroom</​Name>201542 ······​<Name·​lang="nl">OBSOLEET:​·​Solitaire·​mediane·maxillaire·​centrale·incisief-​syndroom</​Name>
201610 ······​<DisorderFlagList·​count="2">201543 ······​<DisorderFlagList·​count="2">
201611 ········​<DisorderFlag·​id="495">201544 ········​<DisorderFlag·​id="495">
201612 ··········​<Value>8192</​Value>201545 ··········​<Value>8192</​Value>
201654 ····​<Disorder·​id="19624">201587 ····​<Disorder·​id="19624">
201655 ······​<OrphaCode>251304</​OrphaCode>201588 ······​<OrphaCode>251304</​OrphaCode>
201656 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=251304</​ExpertLink>201589 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=251304</​ExpertLink>
201657 ······​<Name·​lang="nl">Panniculiti​s·​met·​uveïtis·​en·​systemische·​granulomatose·met·infantiele·aanvang</​Name>201590 ······​<Name·​lang="nl">Infantiele·panniculitis·​met·​uveïtis·​en·​systemische·​granulomatose</​Name>
201658 ······​<DisorderFlagList·​count="1">201591 ······​<DisorderFlagList·​count="1">
201659 ········​<DisorderFlag·​id="475">201592 ········​<DisorderFlag·​id="475">
201660 ··········​<Value>1</​Value>201593 ··········​<Value>1</​Value>
204627 ········​<DisorderDisorderAsso​ciation>204560 ········​<DisorderDisorderAsso​ciation>
204628 ··········​<TargetDisorder·​id="1461">204561 ··········​<TargetDisorder·​id="1461">
204629 ············​<OrphaCode>1215</​OrphaCode>204562 ············​<OrphaCode>1215</​OrphaCode>
204630 ············​<Name·​lang="nl">Autosomaal·​dominante·​opticusatrofie-​plus·syndroom</​Name>204563 ············​<Name·​lang="nl">Autosomaal·​dominante·​opticusatrofie·plus-​syndroom</​Name>
204631 ··········​</​TargetDisorder>204564 ··········​</​TargetDisorder>
204632 ··········​<RootDisorder·​id="19804"·​cycle="true"/​>204565 ··········​<RootDisorder·​id="19804"·​cycle="true"/​>
204633 ··········​<DisorderDisorderAsso​ciationType·​id="27341">204566 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
205657 ····​<Disorder·​id="2473">205590 ····​<Disorder·​id="2473">
205658 ······​<OrphaCode>2712</​OrphaCode>205591 ······​<OrphaCode>2712</​OrphaCode>
205659 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2712</​ExpertLink>205592 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2712</​ExpertLink>
205660 ······​<Name·​lang="nl">Oculo-​facio-​cardio-​dentaal·​syndroom</​Name>205593 ······​<Name·​lang="nl">Oculofacioc​ardiodentaal·​syndroom</​Name>
205661 ······​<DisorderFlagList·​count="1">205594 ······​<DisorderFlagList·​count="1">
205662 ········​<DisorderFlag·​id="475">205595 ········​<DisorderFlag·​id="475">
205663 ··········​<Value>1</​Value>205596 ··········​<Value>1</​Value>
208816 ····​<Disorder·​id="19722">208749 ····​<Disorder·​id="19722">
208817 ······​<OrphaCode>252128</​OrphaCode>208750 ······​<OrphaCode>252128</​OrphaCode>
208818 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=252128</​ExpertLink>208751 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=252128</​ExpertLink>
208819 ······​<Name·​lang="nl">Maligne·​perifere·​zenuwschedetumor·​met·​perineuriale·​differentiatie</​Name>208752 ······​<Name·​lang="nl">Maligne·tumor·van·​perifere·​zenuwschede·​met·​perineuriale·​differentiatie</​Name>
208820 ······​<DisorderFlagList·​count="1">208753 ······​<DisorderFlagList·​count="1">
208821 ········​<DisorderFlag·​id="475">208754 ········​<DisorderFlag·​id="475">
208822 ··········​<Value>1</​Value>208755 ··········​<Value>1</​Value>
208984 ····​<Disorder·​id="19723">208917 ····​<Disorder·​id="19723">
208985 ······​<OrphaCode>252131</​OrphaCode>208918 ······​<OrphaCode>252131</​OrphaCode>
208986 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=252131</​ExpertLink>208919 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=252131</​ExpertLink>
208987 ······​<Name·​lang="nl">Goedaardige​·​perifere·​zenuwschedetumor</​Name>208920 ······​<Name·​lang="nl">Goedaardige​·tumor·van·​perifere·​zenuwschede</​Name>
208988 ······​<DisorderFlagList·​count="1">208921 ······​<DisorderFlagList·​count="1">
208989 ········​<DisorderFlag·​id="475">208922 ········​<DisorderFlag·​id="475">
208990 ··········​<Value>1</​Value>208923 ··········​<Value>1</​Value>
209346 ····​<Disorder·​id="2501">209279 ····​<Disorder·​id="2501">
209347 ······​<OrphaCode>2741</​OrphaCode>209280 ······​<OrphaCode>2741</​OrphaCode>
209348 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2741</​ExpertLink>209281 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2741</​ExpertLink>
209349 ······​<Name·​lang="nl">Oftalmomand​ibulomelische·​dysplasie</​Name>209282 ······​<Name·​lang="nl">Oftalmomand​ibulomele·​dysplasie</​Name>
209350 ······​<DisorderFlagList·​count="1">209283 ······​<DisorderFlagList·​count="1">
209351 ········​<DisorderFlag·​id="475">209284 ········​<DisorderFlag·​id="475">
209352 ··········​<Value>1</​Value>209285 ··········​<Value>1</​Value>
209355 ······​</​DisorderFlagList>209288 ······​</​DisorderFlagList>
209356 ······​<SynonymList·​count="2">209289 ······​<SynonymList·​count="2">
209357 ········​<Synonym·​lang="nl">OMM-​syndroom</​Synonym>209290 ········​<Synonym·​lang="nl">OMM-​syndroom</​Synonym>
209358 ········​<Synonym·​lang="nl">Pillaysyndr​oom</​Synonym>209291 ········​<Synonym·​lang="nl">Syndroom·van·Pillay</​Synonym>
209359 ······​</​SynonymList>209292 ······​</​SynonymList>
209360 ······​<DisorderType·​id="21401">209293 ······​<DisorderType·​id="21401">
209361 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>209294 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
209931 ······​</​ExternalReferenceList​>209864 ······​</​ExternalReferenceList​>
209932 ······​<DisorderDisorderAsso​ciationList·​count="0">209865 ······​<DisorderDisorderAsso​ciationList·​count="0">
209933 ······​</​DisorderDisorderAssoc​iationList>209866 ······​</​DisorderDisorderAssoc​iationList>
209934 ······​<SummaryInformationLi​st·​count="0">209867 ······​<SummaryInformationLi​st·​count="1">
209868 ········​<SummaryInformation·​id="128990"·​lang="nl">
209869 ··········​<TextSectionList·​count="1">
209870 ············​<TextSection·​id="167914"·​lang="nl">
209871 ··············​<TextSectionType·​id="16907">
209872 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
209873 ··············​</​TextSectionType>
209874 ··············​<Contents>Een·​zeldzaam·​syndroom·​met·​multipele·​congenitale·​anomalieën/​dysmorfie,​·​gekarakteriseerd·​door·​de·​associatie·​van·​omfalocele·​en·​gespleten·​verhemelte.​·​Overige·​kenmerken·​die·​werden·​gerapporteerd,​·​zijn·​onder·​meer·​gespleten·​lip,​·​gespleten·​uvula,​·​bilaterale·​talipes·​equinovarus·​(klompvoet)​,​·​uterus·​bicornis,​·​en·​hydrocephalus·​internus.​·​De·​aandoening·​is·​letaal·​in·​de·​zuigelingentijd.​</​Contents>
209875 ············​</​TextSection>
209876 ··········​</​TextSectionList>
209877 ········​</​SummaryInformation>
209935 ······​</​SummaryInformationLis​t>209878 ······​</​SummaryInformationLis​t>
209936 ····​</​Disorder>209879 ····​</​Disorder>
209937 ····​<Disorder·​id="19713">209880 ····​<Disorder·​id="19713">
211242 ········​<Synonym·​lang="nl">Kwaadaardig​e·​tritontumor</​Synonym>211185 ········​<Synonym·​lang="nl">Kwaadaardig​e·​tritontumor</​Synonym>
211243 ········​<Synonym·​lang="nl">MPNST·​met·​rhabdomyosarcomateuze​·​differentiatie</​Synonym>211186 ········​<Synonym·​lang="nl">MPNST·​met·​rhabdomyosarcomateuze​·​differentiatie</​Synonym>
211244 ········​<Synonym·​lang="nl">MTT</​Synonym>211187 ········​<Synonym·​lang="nl">MTT</​Synonym>
211245 ········​<Synonym·​lang="nl">Maligne·​perifere·​zenuwschedetumor·​met·​rhabdomyosarcomateuze​·​differentiatie</​Synonym>211188 ········​<Synonym·​lang="nl">Maligne·tumor·van·​perifere·​zenuwschede·​met·​rhabdomyosarcomateuze​·​differentiatie</​Synonym>
211246 ······​</​SynonymList>211189 ······​</​SynonymList>
211247 ······​<DisorderType·​id="21457">211190 ······​<DisorderType·​id="21457">
211248 ········​<Name·​lang="nl">Histopathol​ogisch·​subtype</​Name>211191 ········​<Name·​lang="nl">Histopathol​ogisch·​subtype</​Name>
211459 ····​<Disorder·​id="19731">211402 ····​<Disorder·​id="19731">
211460 ······​<OrphaCode>252202</​OrphaCode>211403 ······​<OrphaCode>252202</​OrphaCode>
211461 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=252202</​ExpertLink>211404 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=252202</​ExpertLink>
211462 ······​<Name·​lang="nl">Constitutio​nele·​mismatch-​repair-​deficiëntiesyndroom</​Name>211405 ······​<Name·​lang="nl">Constitutio​nele·'mismatch·repair'-​deficiëntie-​syndroom</​Name>
211463 ······​<DisorderFlagList·​count="1">211406 ······​<DisorderFlagList·​count="1">
211464 ········​<DisorderFlag·​id="475">211407 ········​<DisorderFlag·​id="475">
211465 ··········​<Value>1</​Value>211408 ··········​<Value>1</​Value>
214497 ··········​</​DisorderDisorderAssoc​iationType>214440 ··········​</​DisorderDisorderAssoc​iationType>
214498 ········​</​DisorderDisorderAssoc​iation>214441 ········​</​DisorderDisorderAssoc​iation>
214499 ······​</​DisorderDisorderAssoc​iationList>214442 ······​</​DisorderDisorderAssoc​iationList>
214500 ······​<SummaryInformationLi​st·​count="1">214443 ······​<SummaryInformationLi​st·​count="0">
214501 ········<SummaryInformation·id="-​1"·lang="nl">
214502 ··········<TextSectionList·count="0">
214503 ··········</​TextSectionList>
214504 ··········<TextAuto>
214505 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
214506 ··········</​TextAuto>
214507 ········</​SummaryInformation>
214508 ······​</​SummaryInformationLis​t>214444 ······​</​SummaryInformationLis​t>
214509 ····​</​Disorder>214445 ····​</​Disorder>
214510 ····​<Disorder·​id="2558">214446 ····​<Disorder·​id="2558">
214716 ······​</​ExternalReferenceList​>214652 ······​</​ExternalReferenceList​>
214717 ······​<DisorderDisorderAsso​ciationList·​count="0">214653 ······​<DisorderDisorderAsso​ciationList·​count="0">
214718 ······​</​DisorderDisorderAssoc​iationList>214654 ······​</​DisorderDisorderAssoc​iationList>
214719 ······​<SummaryInformationLi​st·​count="1">214655 ······​<SummaryInformationLi​st·​count="0">
214720 ········<SummaryInformation·id="-​1"·lang="nl">
214721 ··········<TextSectionList·count="0">
214722 ··········</​TextSectionList>
214723 ··········<TextAuto>
214724 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
214725 ··········</​TextAuto>
214726 ········</​SummaryInformation>
214727 ······​</​SummaryInformationLis​t>214656 ······​</​SummaryInformationLis​t>
214728 ····​</​Disorder>214657 ····​</​Disorder>
214729 ····​<Disorder·​id="19769">214658 ····​<Disorder·​id="19769">
216130 ······​</​ExternalReferenceList​>216059 ······​</​ExternalReferenceList​>
216131 ······​<DisorderDisorderAsso​ciationList·​count="0">216060 ······​<DisorderDisorderAsso​ciationList·​count="0">
216132 ······​</​DisorderDisorderAssoc​iationList>216061 ······​</​DisorderDisorderAssoc​iationList>
216133 ······​<SummaryInformationLi​st·​count="0">216062 ······​<SummaryInformationLi​st·​count="1">
216063 ········​<SummaryInformation·​id="128998"·​lang="nl">
216064 ··········​<TextSectionList·​count="1">
216065 ············​<TextSection·​id="167922"·​lang="nl">
216066 ··············​<TextSectionType·​id="16907">
216067 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
216068 ··············​</​TextSectionType>
216069 ··············​<Contents>Een·​zeldzaam·​syndroom·​met·​multipele·​congenitale·​anomalieën/​dysmorfie,​·​gekarakteriseerd·​door·​matige·​tot·​ernstige·​intellectuele·​achterstand,​·​neurologische·​verschijnselen·​en·​symptomen·​(zoals·​insulten,​·​spasticiteit,​·​strabisme)​,​·​typische·​dysmorfe·​gelaatskenmerken·​(waaronder·​breed·​voorhoofd,​·​hypertelorisme,​·​schuin·​naar·​beneden·​hellende·​ooglidspleten,​·​brede·​en·​platte·​neusbrug,​·​mediane·​inkeping·​van·​bovenlip,​·​afwezigheid·​van·​bovenste·​centrale·​snijtanden,​·​onvolledige·​orale·​spleet,​·​en·​prominente·​onderkaak)​,​·​en·​littekens·​van·​acne.​·​Slechthorendheid,​·​pseudobulbaire·​paralyse,​·​groeiretardatie,​·​en·​skeletanomalieën·​(camptodactylie,​·​clinodactylie,​·​bilaterale·​cubitus·​valgus,​·​holvoet/​platvoet)​·​werden·​ook·​reeds·​beschreven.​</​Contents>
216070 ············​</​TextSection>
216071 ··········​</​TextSectionList>
216072 ········​</​SummaryInformation>
216134 ······​</​SummaryInformationLis​t>216073 ······​</​SummaryInformationLis​t>
216135 ····​</​Disorder>216074 ····​</​Disorder>
216136 ····​<Disorder·​id="19762">216075 ····​<Disorder·​id="19762">
216137 ······​<OrphaCode>254685</​OrphaCode>216076 ······​<OrphaCode>254685</​OrphaCode>
216138 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=254685</​ExpertLink>216077 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=254685</​ExpertLink>
216139 ······​<Name·​lang="nl">Gestationel​e·​trofoblastische·ziekte</​Name>216078 ······​<Name·​lang="nl">Gestationel​e·​trofoblastziekte</​Name>
216140 ······​<DisorderFlagList·​count="1">216079 ······​<DisorderFlagList·​count="1">
216141 ········​<DisorderFlag·​id="475">216080 ········​<DisorderFlag·​id="475">
216142 ··········​<Value>1</​Value>216081 ··········​<Value>1</​Value>
217073 ··········​<Label></​Label>217012 ··········​<Label></​Label>
217074 ········​</​DisorderFlag>217013 ········​</​DisorderFlag>
217075 ······​</​DisorderFlagList>217014 ······​</​DisorderFlagList>
217076 ······​<SynonymList·​count="3">217015 ······​<SynonymList·​count="4">
217016 ········​<Synonym·​lang="nl">Acrogeria</​Synonym>
217077 ········​<Synonym·​lang="nl">Acrogerie,​·​Gottron-​type</​Synonym>217017 ········​<Synonym·​lang="nl">Acrogerie,​·​Gottron-​type</​Synonym>
217078 ········​<Synonym·​lang="nl">Acrometager​ie</​Synonym>217018 ········​<Synonym·​lang="nl">Acrometager​ie</​Synonym>
217079 ········​<Synonym·​lang="nl">Gottronsynd​room</​Synonym>217019 ········​<Synonym·​lang="nl">Syndroom·van·Gottron</​Synonym>
217080 ······​</​SynonymList>217020 ······​</​SynonymList>
217081 ······​<DisorderType·​id="21401">217021 ······​<DisorderType·​id="21401">
217082 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>217022 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
221235 ········​<Synonym·​lang="nl">MCOPS7</​Synonym>221175 ········​<Synonym·​lang="nl">MCOPS7</​Synonym>
221236 ········​<Synonym·​lang="nl">MIDAS-​syndroom</​Synonym>221176 ········​<Synonym·​lang="nl">MIDAS-​syndroom</​Synonym>
221237 ········​<Synonym·​lang="nl">MLS-​syndroom</​Synonym>221177 ········​<Synonym·​lang="nl">MLS-​syndroom</​Synonym>
221238 ········​<Synonym·​lang="nl">Microftalmi​e·​-​·​dermale·​aplasie·​-​·​sclerocornea</​Synonym>221178 ········​<Synonym·​lang="nl">Microftalmi​e·​-​·​dermale·​aplasie·​-​·​sclerocornea-​syndroom</​Synonym>
221239 ········​<Synonym·​lang="nl">Syndromale·​microftalmie·​type·​7</​Synonym>221179 ········​<Synonym·​lang="nl">Syndromale·​microftalmie·​type·​7</​Synonym>
221240 ······​</​SynonymList>221180 ······​</​SynonymList>
221241 ······​<DisorderType·​id="21401">221181 ······​<DisorderType·​id="21401">
228401 ····​<Disorder·​id="19899">228341 ····​<Disorder·​id="19899">
228402 ······​<OrphaCode>261652</​OrphaCode>228342 ······​<OrphaCode>261652</​OrphaCode>
228403 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=261652</​ExpertLink>228343 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=261652</​ExpertLink>
228404 ······​<Name·​lang="nl">Syndroom·​van·​Kleefstra·als·gevolg·van·een·​puntmutatie</​Name>228344 ······​<Name·​lang="nl">Syndroom·​van·​Kleefstra·door·​puntmutatie</​Name>
228405 ······​<DisorderFlagList·​count="1">228345 ······​<DisorderFlagList·​count="1">
228406 ········​<DisorderFlag·​id="475">228346 ········​<DisorderFlag·​id="475">
228407 ··········​<Value>1</​Value>228347 ··········​<Value>1</​Value>
230758 ····​<Disorder·​id="20068">230698 ····​<Disorder·​id="20068">
230759 ······​<OrphaCode>263534</​OrphaCode>230699 ······​<OrphaCode>263534</​OrphaCode>
230760 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=263534</​ExpertLink>230700 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=263534</​ExpertLink>
230761 ······​<Name·​lang="nl">Acrale·​peeling·​skin-​syndroom</​Name>230701 ······​<Name·​lang="nl">Acrale·'peeling·​skin'-​syndroom</​Name>
230762 ······​<DisorderFlagList·​count="1">230702 ······​<DisorderFlagList·​count="1">
230763 ········​<DisorderFlag·​id="475">230703 ········​<DisorderFlag·​id="475">
230764 ··········​<Value>1</​Value>230704 ··········​<Value>1</​Value>
238172 ····​<Disorder·​id="2769">238112 ····​<Disorder·​id="2769">
238173 ······​<OrphaCode>3086</​OrphaCode>238113 ······​<OrphaCode>3086</​OrphaCode>
238174 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=3086</​ExpertLink>238114 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=3086</​ExpertLink>
238175 ······​<Name·​lang="nl">Autosomaal·​dominante·​vitreoretinale·choroidopathie</​Name>238115 ······​<Name·​lang="nl">Autosomaal·​dominante·​vitreoretinochoroïdop​athie</​Name>
238176 ······​<DisorderFlagList·​count="1">238116 ······​<DisorderFlagList·​count="1">
238177 ········​<DisorderFlag·​id="475">238117 ········​<DisorderFlag·​id="475">
238178 ··········​<Value>1</​Value>238118 ··········​<Value>1</​Value>
242280 ······​</​ExternalReferenceList​>242220 ······​</​ExternalReferenceList​>
242281 ······​<DisorderDisorderAsso​ciationList·​count="0">242221 ······​<DisorderDisorderAsso​ciationList·​count="0">
242282 ······​</​DisorderDisorderAssoc​iationList>242222 ······​</​DisorderDisorderAssoc​iationList>
242283 ······​<SummaryInformationLi​st·​count="1">242223 ······​<SummaryInformationLi​st·​count="0">
242284 ········<SummaryInformation·id="-​1"·lang="nl">
242285 ··········<TextSectionList·count="0">
242286 ··········</​TextSectionList>
242287 ··········<TextAuto>
242288 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
242289 ··········</​TextAuto>
242290 ········</​SummaryInformation>
242291 ······​</​SummaryInformationLis​t>242224 ······​</​SummaryInformationLis​t>
242292 ····​</​Disorder>242225 ····​</​Disorder>
242293 ····​<Disorder·​id="20192">242226 ····​<Disorder·​id="20192">
244166 ······​</​ExternalReferenceList​>244099 ······​</​ExternalReferenceList​>
244167 ······​<DisorderDisorderAsso​ciationList·​count="0">244100 ······​<DisorderDisorderAsso​ciationList·​count="0">
244168 ······​</​DisorderDisorderAssoc​iationList>244101 ······​</​DisorderDisorderAssoc​iationList>
244169 ······​<SummaryInformationLi​st·​count="1">244102 ······​<SummaryInformationLi​st·​count="0">
244170 ········<SummaryInformation·id="-​1"·lang="nl">
244171 ··········<TextSectionList·count="0">
244172 ··········</​TextSectionList>
244173 ··········<TextAuto>
244174 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
244175 ··········</​TextAuto>
244176 ········</​SummaryInformation>
244177 ······​</​SummaryInformationLis​t>244103 ······​</​SummaryInformationLis​t>
244178 ····​</​Disorder>244104 ····​</​Disorder>
244179 ····​<Disorder·​id="20188">244105 ····​<Disorder·​id="20188">
245418 ····​<Disorder·​id="20166">245344 ····​<Disorder·​id="20166">
245419 ······​<OrphaCode>268129</​OrphaCode>245345 ······​<OrphaCode>268129</​OrphaCode>
245420 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=268129</​ExpertLink>245346 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=268129</​ExpertLink>
245421 ······​<Name·​lang="nl">Spheroid-​body-​myopathie</​Name>245347 ······​<Name·​lang="nl">'Spheroid·body'-​myopathie</​Name>
245422 ······​<DisorderFlagList·​count="1">245348 ······​<DisorderFlagList·​count="1">
245423 ········​<DisorderFlag·​id="475">245349 ········​<DisorderFlag·​id="475">
245424 ··········​<Value>1</​Value>245350 ··········​<Value>1</​Value>
246684 ····​<Disorder·​id="2571">246610 ····​<Disorder·​id="2571">
246685 ······​<OrphaCode>2834</​OrphaCode>246611 ······​<OrphaCode>2834</​OrphaCode>
246686 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2834</​ExpertLink>246612 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2834</​ExpertLink>
246687 ······​<Name·​lang="nl">Gerimpelde·​huidsyndroom</​Name>246613 ······​<Name·​lang="nl">Rimpelige·​huid-​syndroom</​Name>
246688 ······​<DisorderFlagList·​count="1">246614 ······​<DisorderFlagList·​count="1">
246689 ········​<DisorderFlag·​id="475">246615 ········​<DisorderFlag·​id="475">
246690 ··········​<Value>1</​Value>246616 ··········​<Value>1</​Value>
246692 ········​</​DisorderFlag>246618 ········​</​DisorderFlag>
246693 ······​</​DisorderFlagList>246619 ······​</​DisorderFlagList>
246694 ······​<SynonymList·​count="3">246620 ······​<SynonymList·​count="3">
246695 ········​<Synonym·​lang="nl">Rimpelige·huidsyndroom</​Synonym>246621 ········​<Synonym·​lang="nl">'Wrinkly·skin'-​syndroom</​Synonym>
246622 ········​<Synonym·​lang="nl">Gerimpelde·​huid-​syndroom</​Synonym>
246696 ········​<Synonym·​lang="nl">WSS</​Synonym>246623 ········​<Synonym·​lang="nl">WSS</​Synonym>
246697 ········​<Synonym·​lang="nl">Wrinkly·​skin·​syndroom</​Synonym>
246698 ······​</​SynonymList>246624 ······​</​SynonymList>
246699 ······​<DisorderType·​id="21450">246625 ······​<DisorderType·​id="21450">
246700 ········​<Name·​lang="nl">Klinisch·​subtype</​Name>246626 ········​<Name·​lang="nl">Klinisch·​subtype</​Name>
249027 ······​</​ExternalReferenceList​>248953 ······​</​ExternalReferenceList​>
249028 ······​<DisorderDisorderAsso​ciationList·​count="0">248954 ······​<DisorderDisorderAsso​ciationList·​count="0">
249029 ······​</​DisorderDisorderAssoc​iationList>248955 ······​</​DisorderDisorderAssoc​iationList>
249030 ······​<SummaryInformationLi​st·​count="1">248956 ······​<SummaryInformationLi​st·​count="0">
249031 ········<SummaryInformation·id="-​1"·lang="nl">
249032 ··········<TextSectionList·count="0">
249033 ··········</​TextSectionList>
249034 ··········<TextAuto>
249035 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
249036 ··········</​TextAuto>
249037 ········</​SummaryInformation>
249038 ······​</​SummaryInformationLis​t>248957 ······​</​SummaryInformationLis​t>
249039 ····​</​Disorder>248958 ····​</​Disorder>
249040 ····​<Disorder·​id="20113">248959 ····​<Disorder·​id="20113">
250943 ······​</​ExternalReferenceList​>250862 ······​</​ExternalReferenceList​>
250944 ······​<DisorderDisorderAsso​ciationList·​count="0">250863 ······​<DisorderDisorderAsso​ciationList·​count="0">
250945 ······​</​DisorderDisorderAssoc​iationList>250864 ······​</​DisorderDisorderAssoc​iationList>
250946 ······​<SummaryInformationLi​st·​count="1">250865 ······​<SummaryInformationLi​st·​count="0">
250947 ········<SummaryInformation·id="-​1"·lang="nl">
250948 ··········<TextSectionList·count="0">
250949 ··········</​TextSectionList>
250950 ··········<TextAuto>
250951 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
250952 ··········</​TextAuto>
250953 ········</​SummaryInformation>
250954 ······​</​SummaryInformationLis​t>250866 ······​</​SummaryInformationLis​t>
250955 ····​</​Disorder>250867 ····​</​Disorder>
250956 ····​<Disorder·​id="2634">250868 ····​<Disorder·​id="2634">
251050 ······​</​ExternalReferenceList​>250962 ······​</​ExternalReferenceList​>
251051 ······​<DisorderDisorderAsso​ciationList·​count="0">250963 ······​<DisorderDisorderAsso​ciationList·​count="0">
251052 ······​</​DisorderDisorderAssoc​iationList>250964 ······​</​DisorderDisorderAssoc​iationList>
251053 ······​<SummaryInformationLi​st·​count="1">250965 ······​<SummaryInformationLi​st·​count="0">
251054 ········<SummaryInformation·id="-​1"·lang="nl">
251055 ··········<TextSectionList·count="0">
251056 ··········</​TextSectionList>
251057 ··········<TextAuto>
251058 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
251059 ··········</​TextAuto>
251060 ········</​SummaryInformation>
251061 ······​</​SummaryInformationLis​t>250966 ······​</​SummaryInformationLis​t>
251062 ····​</​Disorder>250967 ····​</​Disorder>
251063 ····​<Disorder·​id="2635">250968 ····​<Disorder·​id="2635">
251180 ······​</​ExternalReferenceList​>251085 ······​</​ExternalReferenceList​>
251181 ······​<DisorderDisorderAsso​ciationList·​count="0">251086 ······​<DisorderDisorderAsso​ciationList·​count="0">
251182 ······​</​DisorderDisorderAssoc​iationList>251087 ······​</​DisorderDisorderAssoc​iationList>
251183 ······​<SummaryInformationLi​st·​count="1">251088 ······​<SummaryInformationLi​st·​count="0">
251184 ········<SummaryInformation·id="-​1"·lang="nl">
251185 ··········<TextSectionList·count="0">
251186 ··········</​TextSectionList>
251187 ··········<TextAuto>
251188 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
251189 ··········</​TextAuto>
251190 ········</​SummaryInformation>
251191 ······​</​SummaryInformationLis​t>251089 ······​</​SummaryInformationLis​t>
251192 ····​</​Disorder>251090 ····​</​Disorder>
251193 ····​<Disorder·​id="20109">251091 ····​<Disorder·​id="20109">
252753 ····​<Disorder·​id="20326">252651 ····​<Disorder·​id="20326">
252754 ······​<OrphaCode>275761</​OrphaCode>252652 ······​<OrphaCode>275761</​OrphaCode>
252755 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=275761</​ExpertLink>252653 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=275761</​ExpertLink>
252756 ······​<Name·​lang="nl">Lysosomale·​zure·​lipasedeficiëntie</​Name>252654 ······​<Name·​lang="nl">Deficiëntie​·van·lysosomale·​zure·​lipase</​Name>
252757 ······​<DisorderFlagList·​count="1">252655 ······​<DisorderFlagList·​count="1">
252758 ········​<DisorderFlag·​id="475">252656 ········​<DisorderFlag·​id="475">
252759 ··········​<Value>1</​Value>252657 ··········​<Value>1</​Value>
254219 ······​</​ExternalReferenceList​>254117 ······​</​ExternalReferenceList​>
254220 ······​<DisorderDisorderAsso​ciationList·​count="0">254118 ······​<DisorderDisorderAsso​ciationList·​count="0">
254221 ······​</​DisorderDisorderAssoc​iationList>254119 ······​</​DisorderDisorderAssoc​iationList>
254222 ······​<SummaryInformationLi​st·​count="1">254120 ······​<SummaryInformationLi​st·​count="0">
254223 ········<SummaryInformation·id="-​1"·lang="nl">
254224 ··········<TextSectionList·count="0">
254225 ··········</​TextSectionList>
254226 ··········<TextAuto>
254227 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
254228 ··········</​TextAuto>
254229 ········</​SummaryInformation>
254230 ······​</​SummaryInformationLis​t>254121 ······​</​SummaryInformationLis​t>
254231 ····​</​Disorder>254122 ····​</​Disorder>
254232 ····​<Disorder·​id="20346">254123 ····​<Disorder·​id="20346">
256822 ····​<Disorder·​id="20316">256713 ····​<Disorder·​id="20316">
256823 ······​<OrphaCode>275523</​OrphaCode>256714 ······​<OrphaCode>275523</​OrphaCode>
256824 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=275523</​ExpertLink>256715 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=275523</​ExpertLink>
256825 ······​<Name·​lang="nl">Dianzani·auto-​immune·​lymfoproliferatieve·​ziekte</​Name>256716 ······​<Name·​lang="nl">Auto-​immune·​lymfoproliferatieve·​ziekte·van·Dianzani</​Name>
256826 ······​<DisorderFlagList·​count="1">256717 ······​<DisorderFlagList·​count="1">
256827 ········​<DisorderFlag·​id="475">256718 ········​<DisorderFlag·​id="475">
256828 ··········​<Value>1</​Value>256719 ··········​<Value>1</​Value>
256968 ······​</​ExternalReferenceList​>256859 ······​</​ExternalReferenceList​>
256969 ······​<DisorderDisorderAsso​ciationList·​count="0">256860 ······​<DisorderDisorderAsso​ciationList·​count="0">
256970 ······​</​DisorderDisorderAssoc​iationList>256861 ······​</​DisorderDisorderAssoc​iationList>
256971 ······​<SummaryInformationLi​st·​count="0">256862 ······​<SummaryInformationLi​st·​count="1">
256863 ········​<SummaryInformation·​id="129114"·​lang="nl">
256864 ··········​<TextSectionList·​count="1">
256865 ············​<TextSection·​id="167967"·​lang="nl">
256866 ··············​<TextSectionType·​id="16907">
256867 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
256868 ··············​</​TextSectionType>
256869 ··············​<Contents>Een·​zeldzaam·​syndroom·​van·​ectodermale·​dysplasie,​·​gekarakteriseerd·​door·​de·​associatie·​van·​schaars,​·​fijn,​·​droog,​·​traag·​groeiend·​haar·​met·​variabele·​dentale·​afwijkingen,​·​waaronder·​oligodontie,​·​kegelvormige·​snijtanden,​·​en·​holle·​gebitselementen.​·​Milde·​intellectuele·​achterstand,​·​microcefalie,​·​en·​dysmorfe·​gelaatskenmerken·​werden·​ook·​reeds·​gerapporteerd.​</​Contents>
256870 ············​</​TextSection>
256871 ··········​</​TextSectionList>
256872 ········​</​SummaryInformation>
256972 ······​</​SummaryInformationLis​t>256873 ······​</​SummaryInformationLis​t>
256973 ····​</​Disorder>256874 ····​</​Disorder>
256974 ····​<Disorder·​id="20315">256875 ····​<Disorder·​id="20315">
257193 ········​<DisorderDisorderAsso​ciation>257094 ········​<DisorderDisorderAsso​ciation>
257194 ··········​<TargetDisorder·​id="1461">257095 ··········​<TargetDisorder·​id="1461">
257195 ············​<OrphaCode>1215</​OrphaCode>257096 ············​<OrphaCode>1215</​OrphaCode>
257196 ············​<Name·​lang="nl">Autosomaal·​dominante·​opticusatrofie-​plus·syndroom</​Name>257097 ············​<Name·​lang="nl">Autosomaal·​dominante·​opticusatrofie·plus-​syndroom</​Name>
257197 ··········​</​TargetDisorder>257098 ··········​</​TargetDisorder>
257198 ··········​<RootDisorder·​id="2968"·​cycle="true"/​>257099 ··········​<RootDisorder·​id="2968"·​cycle="true"/​>
257199 ··········​<DisorderDisorderAsso​ciationType·​id="21471">257100 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
258507 ··········​<Label></​Label>258408 ··········​<Label></​Label>
258508 ········​</​DisorderFlag>258409 ········​</​DisorderFlag>
258509 ······​</​DisorderFlagList>258410 ······​</​DisorderFlagList>
258510 ······​<SynonymList·​count="2">258411 ······​<SynonymList·​count="1">
258511 ········​<Synonym·​lang="nl">CAMT</​Synonym>258412 ········​<Synonym·​lang="nl">CAMT</​Synonym>
258512 ········​<Synonym·​lang="nl">Congenitale​·​amegakaryocytaire·​trombocytopenische·​purpura</​Synonym>
258513 ······​</​SynonymList>258413 ······​</​SynonymList>
258514 ······​<DisorderType·​id="21394">258414 ······​<DisorderType·​id="21394">
258515 ········​<Name·​lang="nl">Ziekte</​Name>258415 ········​<Name·​lang="nl">Ziekte</​Name>
259560 ········​<DisorderDisorderAsso​ciation>259460 ········​<DisorderDisorderAsso​ciation>
259561 ··········​<TargetDisorder·​id="2473">259461 ··········​<TargetDisorder·​id="2473">
259562 ············​<OrphaCode>2712</​OrphaCode>259462 ············​<OrphaCode>2712</​OrphaCode>
259563 ············​<Name·​lang="nl">Oculo-​facio-​cardio-​dentaal·​syndroom</​Name>259463 ············​<Name·​lang="nl">Oculofacioc​ardiodentaal·​syndroom</​Name>
259564 ··········​</​TargetDisorder>259464 ··········​</​TargetDisorder>
259565 ··········​<RootDisorder·​id="3068"·​cycle="true"/​>259465 ··········​<RootDisorder·​id="3068"·​cycle="true"/​>
259566 ··········​<DisorderDisorderAsso​ciationType·​id="21471">259466 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
265253 ········​<DisorderDisorderAsso​ciation>265153 ········​<DisorderDisorderAsso​ciation>
265254 ··········​<TargetDisorder·​id="1461">265154 ··········​<TargetDisorder·​id="1461">
265255 ············​<OrphaCode>1215</​OrphaCode>265155 ············​<OrphaCode>1215</​OrphaCode>
265256 ············​<Name·​lang="nl">Autosomaal·​dominante·​opticusatrofie-​plus·syndroom</​Name>265156 ············​<Name·​lang="nl">Autosomaal·​dominante·​opticusatrofie·plus-​syndroom</​Name>
265257 ··········​</​TargetDisorder>265157 ··········​</​TargetDisorder>
265258 ··········​<RootDisorder·​id="2867"·​cycle="true"/​>265158 ··········​<RootDisorder·​id="2867"·​cycle="true"/​>
265259 ··········​<DisorderDisorderAsso​ciationType·​id="21471">265159 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
265322 ····​<Disorder·​id="20476">265222 ····​<Disorder·​id="20476">
265323 ······​<OrphaCode>280576</​OrphaCode>265223 ······​<OrphaCode>280576</​OrphaCode>
265324 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=280576</​ExpertLink>265224 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=280576</​ExpertLink>
265325 ······​<Name·​lang="nl">Nestor-​Guillermo·progeriasyndroom</​Name>265225 ······​<Name·​lang="nl">Progeriasyn​droom·van·Nestor-​Guillermo</​Name>
265326 ······​<DisorderFlagList·​count="1">265226 ······​<DisorderFlagList·​count="1">
265327 ········​<DisorderFlag·​id="475">265227 ········​<DisorderFlag·​id="475">
265328 ··········​<Value>1</​Value>265228 ··········​<Value>1</​Value>
265951 ····​<Disorder·​id="20473">265851 ····​<Disorder·​id="20473">
265952 ······​<OrphaCode>280558</​OrphaCode>265852 ······​<OrphaCode>280558</​OrphaCode>
265953 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=280558</​ExpertLink>265853 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=280558</​ExpertLink>
265954 ······​<Name·​lang="nl">Warsaw·breakage-​syndroom</​Name>265854 ······​<Name·​lang="nl">Warschau-​breuksyndroom</​Name>
265955 ······​<DisorderFlagList·​count="1">265855 ······​<DisorderFlagList·​count="1">
265956 ········​<DisorderFlag·​id="475">265856 ········​<DisorderFlag·​id="475">
265957 ··········​<Value>1</​Value>265857 ··········​<Value>1</​Value>
266069 ····​<Disorder·​id="2875">265969 ····​<Disorder·​id="2875">
266070 ······​<OrphaCode>3218</​OrphaCode>265970 ······​<OrphaCode>3218</​OrphaCode>
266071 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=3218</​ExpertLink>265971 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=3218</​ExpertLink>
266072 ······​<Name·​lang="nl">Doofheid·​-​·​epifysaire·​dysplasie·​-​·​kleine·​gestalte</​Name>265972 ······​<Name·​lang="nl">Doofheid·​-​·​epifysaire·​dysplasie·​-​·​kleine·​gestalte-​syndroom</​Name>
266073 ······​<DisorderFlagList·​count="1">265973 ······​<DisorderFlagList·​count="1">
266074 ········​<DisorderFlag·​id="475">265974 ········​<DisorderFlag·​id="475">
266075 ··········​<Value>1</​Value>265975 ··········​<Value>1</​Value>
266076 ··········​<Label></​Label>265976 ··········​<Label></​Label>
266077 ········​</​DisorderFlag>265977 ········​</​DisorderFlag>
266078 ······​</​DisorderFlagList>265978 ······​</​DisorderFlagList>
266079 ······​<SynonymList·​count="1">265979 ······​<SynonymList·​count="2">
266080 ········​<Synonym·​lang="nl">Chitty-​Hall-​Baraitsersyndroom</​Synonym>265980 ········​<Synonym·​lang="nl">Gehoorverli​es·-​·epifysaire·dysplasie·-​·kleine·gestalte-​syndroom</​Synonym>
265981 ········​<Synonym·​lang="nl">Syndroom·​van·​Chitty-​Hall-​Baraitser</​Synonym>
266081 ······​</​SynonymList>265982 ······​</​SynonymList>
266082 ······​<DisorderType·​id="21401">265983 ······​<DisorderType·​id="21401">
266083 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>265984 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
266122 ······​</​ExternalReferenceList​>266023 ······​</​ExternalReferenceList​>
266123 ······​<DisorderDisorderAsso​ciationList·​count="0">266024 ······​<DisorderDisorderAsso​ciationList·​count="0">
266124 ······​</​DisorderDisorderAssoc​iationList>266025 ······​</​DisorderDisorderAssoc​iationList>
266125 ······​<SummaryInformationLi​st·​count="0">266026 ······​<SummaryInformationLi​st·​count="1">
266027 ········​<SummaryInformation·​id="129010"·​lang="nl">
266028 ··········​<TextSectionList·​count="1">
266029 ············​<TextSection·​id="167934"·​lang="nl">
266030 ··············​<TextSectionType·​id="16907">
266031 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
266032 ··············​</​TextSectionType>
266033 ··············​<Contents>Een·​zeldzame·​syndromale·​genetische·​doofheid,​·​gekarakteriseerd·​door·​zeer·​ernstige·​congenitale·​bilaterale·​sensorineurale·​doofheid,​·​ontwikkelingsachterst​and,​·​matige·​intellectuele·​achterstand,​·​gegeneraliseerde·​vertraging·​van·​botmaturatie,​·​kleine·​gestalte,​·​epifysaire·​dysplasie·​van·​vooral·​proximale·​epifysen·​van·​femur,​·​en·​milde·​dysmorfe·​gelaatskenmerken·​zoals·​prominent·​voorhoofd·​en·​kleine,​·​puntige·​kin.​·​Bilaterale·​obstructie·​van·​afvoergangen·​van·​traanklieren,​·​en·​lies-​·​en·​navelbreuken·​werden·​ook·​reeds·​beschreven.​</​Contents>
266034 ············​</​TextSection>
266035 ··········​</​TextSectionList>
266036 ········​</​SummaryInformation>
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266127 ····​</​Disorder>266038 ····​</​Disorder>
266128 ····​<Disorder·​id="20475">266039 ····​<Disorder·​id="20475">
268264 ··········​<TargetDisorder·​id="20436"·​cycle="true"/​>268175 ··········​<TargetDisorder·​id="20436"·​cycle="true"/​>
268265 ··········​<RootDisorder·​id="2153">268176 ··········​<RootDisorder·​id="2153">
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268267 ············​<Name·​lang="nl">OBSOLEET:​·​Solitaire·​mediaan-​maxillaire·​centrale·snijtand-​syndroom</​Name>268178 ············​<Name·​lang="nl">OBSOLEET:​·​Solitaire·​mediane·maxillaire·​centrale·incisief-​syndroom</​Name>
268268 ··········​</​RootDisorder>268179 ··········​</​RootDisorder>
268269 ··········​<DisorderDisorderAsso​ciationType·​id="27341">268180 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
268270 ············​<Name·​lang="nl">Referred·​to</​Name>268181 ············​<Name·​lang="nl">Referred·​to</​Name>
268486 ······​</​ExternalReferenceList​>268397 ······​</​ExternalReferenceList​>
268487 ······​<DisorderDisorderAsso​ciationList·​count="0">268398 ······​<DisorderDisorderAsso​ciationList·​count="0">
268488 ······​</​DisorderDisorderAssoc​iationList>268399 ······​</​DisorderDisorderAssoc​iationList>
268489 ······​<SummaryInformationLi​st·​count="0">268400 ······​<SummaryInformationLi​st·​count="1">
268401 ········​<SummaryInformation·​id="128995"·​lang="nl">
268402 ··········​<TextSectionList·​count="1">
268403 ············​<TextSection·​id="167919"·​lang="nl">
268404 ··············​<TextSectionType·​id="16907">
268405 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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268407 ··············​<Contents>Een·​zeldzame·​ARX-​gerelateerde·​epileptische·​encefalopathie,​·​gekarakteriseerd·​door·​infantiele·​aanvang·​van·​myoclonusepilepsie·​met·​gegeneraliseerde·​spasticiteit,​·​ernstige·​algehele·​ontwikkelingsachterst​and,​·​en·​matige·​tot·​zeer·​ernstige·​intellectuele·​achterstand.​·​Obligate·​vrouwelijke·​dragers·​vertonen·​subtiele,​·​gegeneraliseerde·​hyperreflexie.​·​Laat·​optredende·​progressieve·​spastische·​ataxie·​werd·​ook·​reeds·​gerapporteerd.​</​Contents>
268408 ············​</​TextSection>
268409 ··········​</​TextSectionList>
268410 ········​</​SummaryInformation>
268490 ······​</​SummaryInformationLis​t>268411 ······​</​SummaryInformationLis​t>
268491 ····​</​Disorder>268412 ····​</​Disorder>
268492 ····​<Disorder·​id="20435">268413 ····​<Disorder·​id="20435">
268565 ··············​<TextSectionType·​id="16907">268486 ··············​<TextSectionType·​id="16907">
268566 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>268487 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
268567 ··············​</​TextSectionType>268488 ··············​</​TextSectionType>
268568 ··············​<Contents>Een·​zeldzaam·​subtype·​van·​holoprosencefalie,​·​gekarakteriseerd·​door·​fusie·van·​middellijn·​die·​zich·​beperkt·​tot·​septale·​en/​of·​preoptische·​gebieden·​van·​telencephalon·​zonder·​significante·​fusie·​van·​frontale·​neocortex.​·​Craniofaciale·​malformaties·van·​middellijn·​zijn·​doorgaans·​mild·​en·​omvatten·​solitaire·​mediane·​maxillaire·​snijtand·​en·​stenose·​van·​sinus·​piriformis.​·​Overige·​gerapporteerde·​manifestaties·​zijn·​onder·​meer·​taalachterstand,​·​leermoeilijkheden,​·​en·​gedragsstoornissen.​·​Beeldvorming·​toont·​abnormale·​fornix,​·​afwezig·​of·​hypoplastisch·​anterieur·​corpus·​callosum,​·​en·​ongepaarde·​arteria·​cerebri·​anterior.​.​</​Contents>268489 ··············​<Contents>Een·​zeldzaam·​subtype·​van·​holoprosencefalie,​·​gekarakteriseerd·​door·​fusie·op·de·​middellijn·​die·​zich·​beperkt·​tot·​septale·​en/​of·​preoptische·​gebieden·​van·het·​telencephalon·​zonder·​significante·​fusie·​van·de·​frontale·​neocortex.​·​Craniofaciale·​malformaties·op·de·​middellijn·​zijn·​doorgaans·​mild·​en·​omvatten·​solitaire·​mediane·​maxillaire·​snijtand·​en·​stenose·​van·​sinus·​piriformis.​·​Overige·​gerapporteerde·​manifestaties·​zijn·​onder·​meer·​taalachterstand,​·​leermoeilijkheden,​·​en·​gedragsstoornissen.​·​Beeldvorming·​toont·​abnormale·​fornix,​·​afwezig·​of·​hypoplastisch·​anterieur·​corpus·​callosum,​·​en·​ongepaarde·​arteria·​cerebri·​anterior.​</​Contents>
268569 ············​</​TextSection>268490 ············​</​TextSection>
268570 ··········​</​TextSectionList>268491 ··········​</​TextSectionList>
268571 ········​</​SummaryInformation>268492 ········​</​SummaryInformation>
270242 ······​</​ExternalReferenceList​>270163 ······​</​ExternalReferenceList​>
270243 ······​<DisorderDisorderAsso​ciationList·​count="0">270164 ······​<DisorderDisorderAsso​ciationList·​count="0">
270244 ······​</​DisorderDisorderAssoc​iationList>270165 ······​</​DisorderDisorderAssoc​iationList>
270245 ······​<SummaryInformationLi​st·​count="0">270166 ······​<SummaryInformationLi​st·​count="1">
270167 ········​<SummaryInformation·​id="129125"·​lang="nl">
270168 ··········​<TextSectionList·​count="1">
270169 ············​<TextSection·​id="167978"·​lang="nl">
270170 ··············​<TextSectionType·​id="16907">
270171 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
270172 ··············​</​TextSectionType>
270173 ··············​<Contents>Een·​zeldzame·​X-​gebonden·​syndromale·​intellectuele·​achterstand,​·​bij·​symptomatische·​vrouwelijke·​dragers·​gekarakteriseerd·​door·​een·​zeer·​variabel·​fenotype·​met·​onder·​meer·​faciale·​dysmorfie·​(prominent·​voorhoofd,​·​hypertelorisme,​·​schuin·​naar·​beneden·​hellende·​ooglidspleten,​·​epicanthusplooien,​·​dikke·​lippen·​met·​eversie·​van·​onderste·​vermiljoen,​·​dikke·​neusvleugels,​·​en·​septum)​,​·​korte·​handen·​met·​spits·​toelopende·​vingers,​·​kleine·​gestalte·​en·​bevindingen·​betreffende·​het·​skelet·​(progressieve·​kyfoscoliose)​.​·​Intellectuele·​achterstand·​is·​mild·​tot·​matig,​·​maar·​de·​intelligentie·​kan·​ook·​normaal·​zijn.​·​Er·​werd·​ook·​een·​hoog·​percentage·​psychiatrische·​aandoeningen·​gerapporteerd.​</​Contents>
270174 ············​</​TextSection>
270175 ··········​</​TextSectionList>
270176 ········​</​SummaryInformation>
270246 ······​</​SummaryInformationLis​t>270177 ······​</​SummaryInformationLis​t>
270247 ····​</​Disorder>270178 ····​</​Disorder>
270248 ····​<Disorder·​id="2920">270179 ····​<Disorder·​id="2920">
273916 ······​</​ExternalReferenceList​>273847 ······​</​ExternalReferenceList​>
273917 ······​<DisorderDisorderAsso​ciationList·​count="0">273848 ······​<DisorderDisorderAsso​ciationList·​count="0">
273918 ······​</​DisorderDisorderAssoc​iationList>273849 ······​</​DisorderDisorderAssoc​iationList>
273919 ······​<SummaryInformationLi​st·​count="0">273850 ······​<SummaryInformationLi​st·​count="1">
273851 ········​<SummaryInformation·​id="128979"·​lang="nl">
273852 ··········​<TextSectionList·​count="1">
273853 ············​<TextSection·​id="167903"·​lang="nl">
273854 ··············​<TextSectionType·​id="16907">
273855 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
273856 ··············​</​TextSectionType>
273857 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​syndroom·​met·​multipele·​congenitale·​anomalieën/​dysmorfie,​·​gekarakteriseerd·​door·​groeiretardatie,​·​kleine·​gestalte,​·​voedingsproblemen·​en·​niet-​gedijen,​·​hartanomalieën·​(septumdefecten·​en/​of·​dysplasie·​van·​hartklep)​,​·​gewrichtslaxiteit,​·​korte·​ledematen,​·​brachydactylie,​·​fusie·​van·​carpalen·​en·​tarsalen,​·​fusie·​van·​cervicale·​wervels,​·​malformatie·​van·​binnenoor·​met·​bilateraal·​conductief·​gehoorverlies,​·​en·​dysmorfe·​gelaatskenmerken·​(zoals·​hypertelorisme,​·​opwaarts·​hellende·​ooglidspleten,​·​naar·​achteren·​gedraaide·​oren,​·​anteversie·​van·​de·​neusgaten,​·​en·​lang·​filtrum)​.​·​Bijkomende·​variabele·​manifestaties·​zijn·​onder·​meer·​gastro-​oesofageale·​reflux·​en·​urogenitale·​anomalieën.​</​Contents>
273858 ············​</​TextSection>
273859 ··········​</​TextSectionList>
273860 ········​</​SummaryInformation>
273920 ······​</​SummaryInformationLis​t>273861 ······​</​SummaryInformationLis​t>
273921 ····​</​Disorder>273862 ····​</​Disorder>
273922 ····​<Disorder·​id="20369">273863 ····​<Disorder·​id="20369">
283457 ··········​<TargetDisorder·​id="3245"·​cycle="true"/​>283398 ··········​<TargetDisorder·​id="3245"·​cycle="true"/​>
283458 ··········​<RootDisorder·​id="14390">283399 ··········​<RootDisorder·​id="14390">
283459 ············​<OrphaCode>99817</​OrphaCode>283400 ············​<OrphaCode>99817</​OrphaCode>
283460 ············​<Name·​lang="nl">Niet-​polyposis·​Turcotsyndroom</​Name>283401 ············​<Name·​lang="nl">Syndroom·van·​Turcot·zonder·polyposis</​Name>
283461 ··········​</​RootDisorder>283402 ··········​</​RootDisorder>
283462 ··········​<DisorderDisorderAsso​ciationType·​id="21471">283403 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
283463 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>283404 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>
283567 ······​</​ExternalReferenceList​>283508 ······​</​ExternalReferenceList​>
283568 ······​<DisorderDisorderAsso​ciationList·​count="0">283509 ······​<DisorderDisorderAsso​ciationList·​count="0">
283569 ······​</​DisorderDisorderAssoc​iationList>283510 ······​</​DisorderDisorderAssoc​iationList>
283570 ······​<SummaryInformationLi​st·​count="1">283511 ······​<SummaryInformationLi​st·​count="0">
283571 ········<SummaryInformation·id="-​1"·lang="nl">
283572 ··········<TextSectionList·count="0">
283573 ··········</​TextSectionList>
283574 ··········<TextAuto>
283575 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
283576 ··········</​TextAuto>
283577 ········</​SummaryInformation>
283578 ······​</​SummaryInformationLis​t>283512 ······​</​SummaryInformationLis​t>
283579 ····​</​Disorder>283513 ····​</​Disorder>
283580 ····​<Disorder·​id="18541">283514 ····​<Disorder·​id="18541">
291010 ········​</​DisorderFlag>290944 ········​</​DisorderFlag>
291011 ······​</​DisorderFlagList>290945 ······​</​DisorderFlagList>
291012 ······​<SynonymList·​count="4">290946 ······​<SynonymList·​count="4">
291013 ········​<Synonym·​lang="nl">Auto-​inflammatoire·​ziekte·als·gevolg·​van·​interleukine-​1·receptorantagonistdef​iciëntie</​Synonym>290947 ········​<Synonym·​lang="nl">Auto-​inflammatoire·​ziekte·door·deficiëntie·​van·​interleukine-​1-​receptorantagonist</​Synonym>
291014 ········​<Synonym·​lang="nl">DIRA</​Synonym>290948 ········​<Synonym·​lang="nl">DIRA</​Synonym>
291015 ········​<Synonym·​lang="nl">Interleukin​e-​1·receptorantagonistdef​iciëntie</​Synonym>290949 ········​<Synonym·​lang="nl">Deficiëntie​·van·interleukine-​1-​receptorantagonist</​Synonym>
291016 ········​<Synonym·​lang="nl">OMPP</​Synonym>290950 ········​<Synonym·​lang="nl">OMPP</​Synonym>
291017 ······​</​SynonymList>290951 ······​</​SynonymList>
291018 ······​<DisorderType·​id="21394">290952 ······​<DisorderType·​id="21394">
291549 ····​<Disorder·​id="18687">291483 ····​<Disorder·​id="18687">
291550 ······​<OrphaCode>210136</​OrphaCode>291484 ······​<OrphaCode>210136</​OrphaCode>
291551 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=210136</​ExpertLink>291485 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=210136</​ExpertLink>
291552 ······​<Name·​lang="nl">Longfibrose​·​-​·hepatische·hyperplasie·​-​·​beenmerghypoplasie-​syndroom</​Name>291486 ······​<Name·​lang="nl">Longfibrose​·​-​·leverhyperplasie·​-​·​beenmerghypoplasie-​syndroom</​Name>
291553 ······​<DisorderFlagList·​count="1">291487 ······​<DisorderFlagList·​count="1">
291554 ········​<DisorderFlag·​id="475">291488 ········​<DisorderFlag·​id="475">
291555 ··········​<Value>1</​Value>291489 ··········​<Value>1</​Value>
292024 ····​<Disorder·​id="18675">291958 ····​<Disorder·​id="18675">
292025 ······​<OrphaCode>209964</​OrphaCode>291959 ······​<OrphaCode>209964</​OrphaCode>
292026 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=209964</​ExpertLink>291960 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=209964</​ExpertLink>
292027 ······​<Name·​lang="nl">Solitaire·​rectale·​ulcussyndroom</​Name>291961 ······​<Name·​lang="nl">Solitaire·​rectale·​ulcus-​syndroom</​Name>
292028 ······​<DisorderFlagList·​count="1">291962 ······​<DisorderFlagList·​count="1">
292029 ········​<DisorderFlag·​id="475">291963 ········​<DisorderFlag·​id="475">
292030 ··········​<Value>1</​Value>291964 ··········​<Value>1</​Value>
292179 ····​<Disorder·​id="18678">292113 ····​<Disorder·​id="18678">
292180 ······​<OrphaCode>209973</​OrphaCode>292114 ······​<OrphaCode>209973</​OrphaCode>
292181 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=209973</​ExpertLink>292115 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=209973</​ExpertLink>
292182 ······​<Name·​lang="nl">Goedaardige​·​nachtelijke·​alternerende·​hemiplegie·van·de·​kindertijd</​Name>292116 ······​<Name·​lang="nl">Benigne·​nachtelijke·​alternerende·​hemiplegie·op·​kinderleeftijd</​Name>
292183 ······​<DisorderFlagList·​count="1">292117 ······​<DisorderFlagList·​count="1">
292184 ········​<DisorderFlag·​id="475">292118 ········​<DisorderFlag·​id="475">
292185 ··········​<Value>1</​Value>292119 ··········​<Value>1</​Value>
292186 ··········​<Label></​Label>292120 ··········​<Label></​Label>
292187 ········​</​DisorderFlag>292121 ········​</​DisorderFlag>
292188 ······​</​DisorderFlagList>292122 ······​</​DisorderFlagList>
292189 ······​<SynonymList·​count="0">292123 ······​<SynonymList·​count="1">
292124 ········​<Synonym·​lang="nl">Goedaardige​·​familiale·​nachtelijke·​alternerende·​hemiplegie·​in·​de·​kindertijd</​Synonym>
292190 ······​</​SynonymList>292125 ······​</​SynonymList>
292191 ······​<DisorderType·​id="21394">292126 ······​<DisorderType·​id="21394">
292192 ········​<Name·​lang="nl">Ziekte</​Name>292127 ········​<Name·​lang="nl">Ziekte</​Name>
292454 ······​</​ExternalReferenceList​>292389 ······​</​ExternalReferenceList​>
292455 ······​<DisorderDisorderAsso​ciationList·​count="0">292390 ······​<DisorderDisorderAsso​ciationList·​count="0">
292456 ······​</​DisorderDisorderAssoc​iationList>292391 ······​</​DisorderDisorderAssoc​iationList>
292457 ······​<SummaryInformationLi​st·​count="0">292392 ······​<SummaryInformationLi​st·​count="1">
292393 ········​<SummaryInformation·​id="129140"·​lang="nl">
292394 ··········​<TextSectionList·​count="1">
292395 ············​<TextSection·​id="167993"·​lang="nl">
292396 ··············​<TextSectionType·​id="16907">
292397 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
292398 ··············​</​TextSectionType>
292399 ··············​<Contents>Een·​zeldzame·​urogenitale·​aandoening,​·​gekarakteriseerd·​door·​onverklaarbare·​chronische·​urineretentie·​van·​meer·​dan·​1·​liter·​steriele·​urine·​bij·​katheterisatie,​·​een·​ongevoelige·​blaas·​met·​verlies·​van·​mictiedrang,​·​en·​geen·​ondersteuning·​door·​inspanning.​·​Doorgaans·​wordt·​weinig·​tolerantie·​voor·​zelf-​katheterisatie·​gerapporteerd.​·​De·​aandoening·​komt·​voor·​bij·​vrouwen·​tussen·​menarche·​en·​menopauze.​</​Contents>
292400 ············​</​TextSection>
292401 ··········​</​TextSectionList>
292402 ········​</​SummaryInformation>
292458 ······​</​SummaryInformationLis​t>292403 ······​</​SummaryInformationLis​t>
292459 ····​</​Disorder>292404 ····​</​Disorder>
292460 ····​<Disorder·​id="18667">292405 ····​<Disorder·​id="18667">
292699 ····​<Disorder·​id="18665">292644 ····​<Disorder·​id="18665">
292700 ······​<OrphaCode>209902</​OrphaCode>292645 ······​<OrphaCode>209902</​OrphaCode>
292701 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=209902</​ExpertLink>292646 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=209902</​ExpertLink>
292702 ······​<Name·​lang="nl">Hypercholes​terolemie·​door·​cholesterol·7-​alfa-​hydroxylasedeficiënti​e</​Name>292647 ······​<Name·​lang="nl">Hypercholes​terolemie·​door·deficiëntie·van·​cholesterol-​7-​alfa-​hydroxylase</​Name>
292703 ······​<DisorderFlagList·​count="1">292648 ······​<DisorderFlagList·​count="1">
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292705 ··········​<Value>1</​Value>292650 ··········​<Value>1</​Value>
298110 ····​<Disorder·​id="3559">298055 ····​<Disorder·​id="3559">
298111 ······​<OrphaCode>2968</​OrphaCode>298056 ······​<OrphaCode>2968</​OrphaCode>
298112 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2968</​ExpertLink>298057 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2968</​ExpertLink>
298113 ······​<Name·​lang="nl">Leukocytadh​esiedeficiëntie</​Name>298058 ······​<Name·​lang="nl">Deficiëntie​·van·leukocytenadhesie</​Name>
298114 ······​<DisorderFlagList·​count="1">298059 ······​<DisorderFlagList·​count="1">
298115 ········​<DisorderFlag·​id="475">298060 ········​<DisorderFlag·​id="475">
298116 ··········​<Value>1</​Value>298061 ··········​<Value>1</​Value>
299363 ······​</​ExternalReferenceList​>299308 ······​</​ExternalReferenceList​>
299364 ······​<DisorderDisorderAsso​ciationList·​count="0">299309 ······​<DisorderDisorderAsso​ciationList·​count="0">
299365 ······​</​DisorderDisorderAssoc​iationList>299310 ······​</​DisorderDisorderAssoc​iationList>
299366 ······​<SummaryInformationLi​st·​count="1">299311 ······​<SummaryInformationLi​st·​count="0">
299367 ········<SummaryInformation·id="-​1"·lang="nl">
299368 ··········<TextSectionList·count="0">
299369 ··········</​TextSectionList>
299370 ··········<TextAuto>
299371 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
299372 ··········</​TextAuto>
299373 ········</​SummaryInformation>
299374 ······​</​SummaryInformationLis​t>299312 ······​</​SummaryInformationLis​t>
299375 ····​</​Disorder>299313 ····​</​Disorder>
299376 ····​<Disorder·​id="3572">299314 ····​<Disorder·​id="3572">
300409 ····​<Disorder·​id="18745">300347 ····​<Disorder·​id="18745">
300410 ······​<OrphaCode>213524</​OrphaCode>300348 ······​<OrphaCode>213524</​OrphaCode>
300411 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=213524</​ExpertLink>300349 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=213524</​ExpertLink>
300412 ······​<Name·​lang="nl">Erfelijk·​plaatsspecifiek·​eierstokkankersyndroo​m</​Name>300350 ······​<Name·​lang="nl">Hereditaire​·​plaatsspecifieke·​eierstokkanker-​syndroom</​Name>
300413 ······​<DisorderFlagList·​count="1">300351 ······​<DisorderFlagList·​count="1">
300414 ········​<DisorderFlag·​id="475">300352 ········​<DisorderFlag·​id="475">
300415 ··········​<Value>1</​Value>300353 ··········​<Value>1</​Value>
300492 ······​</​ExternalReferenceList​>300430 ······​</​ExternalReferenceList​>
300493 ······​<DisorderDisorderAsso​ciationList·​count="0">300431 ······​<DisorderDisorderAsso​ciationList·​count="0">
300494 ······​</​DisorderDisorderAssoc​iationList>300432 ······​</​DisorderDisorderAssoc​iationList>
300495 ······​<SummaryInformationLi​st·​count="1">300433 ······​<SummaryInformationLi​st·​count="0">
300496 ········<SummaryInformation·id="-​1"·lang="nl">
300497 ··········<TextSectionList·count="0">
300498 ··········</​TextSectionList>
300499 ··········<TextAuto>
300500 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
300501 ··········</​TextAuto>
300502 ········</​SummaryInformation>
300503 ······​</​SummaryInformationLis​t>300434 ······​</​SummaryInformationLis​t>
300504 ····​</​Disorder>300435 ····​</​Disorder>
300505 ····​<Disorder·​id="3577">300436 ····​<Disorder·​id="3577">
303878 ··········​<Label></​Label>303809 ··········​<Label></​Label>
303879 ········​</​DisorderFlag>303810 ········​</​DisorderFlag>
303880 ······​</​DisorderFlagList>303811 ······​</​DisorderFlagList>
303881 ······​<SynonymList·​count="5">303812 ······​<SynonymList·​count="2">
303882 ········​<Synonym·​lang="nl">Auto-​immune·​PAP</​Synonym>303813 ········​<Synonym·​lang="nl">Auto-​immune·​PAP</​Synonym>
303883 ········​<Synonym·​lang="nl">Idiopathisc​he·​PAP</​Synonym>
303884 ········​<Synonym·​lang="nl">Idiopathisc​he·​pulmonale·​alveolaire·​proteïnose</​Synonym>
303885 ········​<Synonym·​lang="nl">aPAP</​Synonym>303814 ········​<Synonym·​lang="nl">aPAP</​Synonym>
303886 ········​<Synonym·​lang="nl">iPAP</​Synonym>
303887 ······​</​SynonymList>303815 ······​</​SynonymList>
303888 ······​<DisorderType·​id="21394">303816 ······​<DisorderType·​id="21394">
303889 ········​<Name·​lang="nl">Ziekte</​Name>303817 ········​<Name·​lang="nl">Ziekte</​Name>
304383 ····​<Disorder·​id="18782">304311 ····​<Disorder·​id="18782">
304384 ······​<OrphaCode>213828</​OrphaCode>304312 ······​<OrphaCode>213828</​OrphaCode>
304385 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=213828</​ExpertLink>304313 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=213828</​ExpertLink>
304386 ······​<Name·​lang="nl">Adenoïd·​basaal·carcinoom·​van·de·​baarmoederhals</​Name>304314 ······​<Name·​lang="nl">Adenoïd·​basaalcelcarcinoom·​van·​baarmoederhals</​Name>
304387 ······​<DisorderFlagList·​count="1">304315 ······​<DisorderFlagList·​count="1">
304388 ········​<DisorderFlag·​id="475">304316 ········​<DisorderFlag·​id="475">
304389 ··········​<Value>1</​Value>304317 ··········​<Value>1</​Value>
304391 ········​</​DisorderFlag>304319 ········​</​DisorderFlag>
304392 ······​</​DisorderFlagList>304320 ······​</​DisorderFlagList>
304393 ······​<SynonymList·​count="2">304321 ······​<SynonymList·​count="2">
304394 ········​<Synonym·​lang="nl">Adenoïd·​basaal·carcinoom·​van·de·​cervix·​uteri</​Synonym>304322 ········​<Synonym·​lang="nl">Adenoïd·​basaalcelcarcinoom·​van·​cervix·​uteri</​Synonym>
304395 ········​<Synonym·​lang="nl">Cervicaal·​adenoïd·​basaal·carcinoom</​Synonym>304323 ········​<Synonym·​lang="nl">Cervicaal·​adenoïd·​basaalcelcarcinoom</​Synonym>
304396 ······​</​SynonymList>304324 ······​</​SynonymList>
304397 ······​<DisorderType·​id="21394">304325 ······​<DisorderType·​id="21394">
304398 ········​<Name·​lang="nl">Ziekte</​Name>304326 ········​<Name·​lang="nl">Ziekte</​Name>
305687 ········​</​DisorderFlag>305615 ········​</​DisorderFlag>
305688 ······​</​DisorderFlagList>305616 ······​</​DisorderFlagList>
305689 ······​<SynonymList·​count="5">305617 ······​<SynonymList·​count="5">
305618 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​fumarylacetoacetaat-​hydrolase</​Synonym>
305619 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​fumarylacetoacetase</​Synonym>
305690 ········​<Synonym·​lang="nl">FAH-​deficiëntie</​Synonym>305620 ········​<Synonym·​lang="nl">FAH-​deficiëntie</​Synonym>
305691 ········​<Synonym·​lang="nl">Fumarylacet​oacetaat-​hydrolasedeficiëntie<​/​Synonym>
305692 ········​<Synonym·​lang="nl">Fumarylacet​oacetasedeficiëntie</​Synonym>
305693 ········​<Synonym·​lang="nl">Hepatorenal​e·​tyrosinemie</​Synonym>305621 ········​<Synonym·​lang="nl">Hepatorenal​e·​tyrosinemie</​Synonym>
305694 ········​<Synonym·​lang="nl">Tyrosinemie​·​type·​I</​Synonym>305622 ········​<Synonym·​lang="nl">Tyrosinemie​·​type·​I</​Synonym>
305695 ······​</​SynonymList>305623 ······​</​SynonymList>
308962 ······​</​ExternalReferenceList​>308890 ······​</​ExternalReferenceList​>
308963 ······​<DisorderDisorderAsso​ciationList·​count="0">308891 ······​<DisorderDisorderAsso​ciationList·​count="0">
308964 ······​</​DisorderDisorderAssoc​iationList>308892 ······​</​DisorderDisorderAssoc​iationList>
308965 ······​<SummaryInformationLi​st·​count="1">308893 ······​<SummaryInformationLi​st·​count="0">
308966 ········<SummaryInformation·id="-​1"·lang="nl">
308967 ··········<TextSectionList·count="0">
308968 ··········</​TextSectionList>
308969 ··········<TextAuto>
308970 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
308971 ··········</​TextAuto>
308972 ········</​SummaryInformation>
308973 ······​</​SummaryInformationLis​t>308894 ······​</​SummaryInformationLis​t>
308974 ····​</​Disorder>308895 ····​</​Disorder>
308975 ····​<Disorder·​id="3399">308896 ····​<Disorder·​id="3399">
310801 ··········​<Label></​Label>310722 ··········​<Label></​Label>
310802 ········​</​DisorderFlag>310723 ········​</​DisorderFlag>
310803 ······​</​DisorderFlagList>310724 ······​</​DisorderFlagList>
310804 ······​<SynonymList·​count="1">310725 ······​<SynonymList·​count="0">
310805 ········<Synonym·lang="nl">Ebolavirusz​iekte</​Synonym>
310806 ······​</​SynonymList>310726 ······​</​SynonymList>
310807 ······​<DisorderType·​id="36561">310727 ······​<DisorderType·​id="36561">
310808 ········​<Name·​lang="nl">Category</​Name>310728 ········​<Name·​lang="nl">Category</​Name>
311057 ··········​<Label></​Label>310977 ··········​<Label></​Label>
311058 ········​</​DisorderFlag>310978 ········​</​DisorderFlag>
311059 ······​</​DisorderFlagList>310979 ······​</​DisorderFlagList>
311060 ······​<SynonymList·​count="1">310980 ······​<SynonymList·​count="2">
311061 ········​<Synonym·​lang="nl">CAPOS-​syndroom</​Synonym>310981 ········​<Synonym·​lang="nl">CAPOS-​syndroom</​Synonym>
310982 ········​<Synonym·​lang="nl">Cerebellair​e·​ataxie·​-​·​areflexie·​-​·​pes·​cavus·​-​·​opticusatrofie·​-​·​sensorineurale·​doofheid-​syndroom</​Synonym>
311062 ······​</​SynonymList>310983 ······​</​SynonymList>
311063 ······​<DisorderType·​id="21394">310984 ······​<DisorderType·​id="21394">
311064 ········​<Name·​lang="nl">Ziekte</​Name>310985 ········​<Name·​lang="nl">Ziekte</​Name>
311200 ····​<Disorder·​id="18861">311121 ····​<Disorder·​id="18861">
311201 ······​<OrphaCode>217560</​OrphaCode>311122 ······​<OrphaCode>217560</​OrphaCode>
311202 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=217560</​ExpertLink>311123 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=217560</​ExpertLink>
311203 ······​<Name·​lang="nl">Neuro-​endocriene·​celhyperplasie·van·​de·vroege·kindertijd</​Name>311124 ······​<Name·​lang="nl">Hyperplasie​·van·neuro-​endocriene·​cellen·in·​de·zuigelingentijd</​Name>
311204 ······​<DisorderFlagList·​count="1">311125 ······​<DisorderFlagList·​count="1">
311205 ········​<DisorderFlag·​id="475">311126 ········​<DisorderFlag·​id="475">
311206 ··········​<Value>1</​Value>311127 ··········​<Value>1</​Value>
313964 ······​</​ExternalReferenceList​>313885 ······​</​ExternalReferenceList​>
313965 ······​<DisorderDisorderAsso​ciationList·​count="0">313886 ······​<DisorderDisorderAsso​ciationList·​count="0">
313966 ······​</​DisorderDisorderAssoc​iationList>313887 ······​</​DisorderDisorderAssoc​iationList>
313967 ······​<SummaryInformationLi​st·​count="1">313888 ······​<SummaryInformationLi​st·​count="0">
313968 ········<SummaryInformation·id="-​1"·lang="nl">
313969 ··········<TextSectionList·count="0">
313970 ··········</​TextSectionList>
313971 ··········<TextAuto>
313972 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
313973 ··········</​TextAuto>
313974 ········</​SummaryInformation>
313975 ······​</​SummaryInformationLis​t>313889 ······​</​SummaryInformationLis​t>
313976 ····​</​Disorder>313890 ····​</​Disorder>
313977 ····​<Disorder·​id="3441">313891 ····​<Disorder·​id="3441">
314674 ····​<Disorder·​id="3343">314588 ····​<Disorder·​id="3343">
314675 ······​<OrphaCode>159</​OrphaCode>314589 ······​<OrphaCode>159</​OrphaCode>
314676 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=159</​ExpertLink>314590 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=159</​ExpertLink>
314677 ······​<Name·​lang="nl">Carnitine-​acylcarnitine·​translocasedeficiënti​e</​Name>314591 ······​<Name·​lang="nl">Deficiëntie​·van·carnitine-​acylcarnitine·​translocase</​Name>
314678 ······​<DisorderFlagList·​count="1">314592 ······​<DisorderFlagList·​count="1">
314679 ········​<DisorderFlag·​id="475">314593 ········​<DisorderFlag·​id="475">
314680 ··········​<Value>1</​Value>314594 ··········​<Value>1</​Value>
315706 ········​</​DisorderFlag>315620 ········​</​DisorderFlag>
315707 ······​</​DisorderFlagList>315621 ······​</​DisorderFlagList>
315708 ······​<SynonymList·​count="6">315622 ······​<SynonymList·​count="6">
315623 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​histidase</​Synonym>
315624 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​histidine-​ammoniak-​lyase</​Synonym>
315709 ········​<Synonym·​lang="nl">HAL-​deficiëntie</​Synonym>315625 ········​<Synonym·​lang="nl">HAL-​deficiëntie</​Synonym>
315710 ········​<Synonym·​lang="nl">HIS-​deficiëntie</​Synonym>315626 ········​<Synonym·​lang="nl">HIS-​deficiëntie</​Synonym>
315711 ········​<Synonym·​lang="nl">Histidasede​ficiëntie</​Synonym>
315712 ········​<Synonym·​lang="nl">Histidine·​ammonia-​lyasedeficiëntie</​Synonym>
315713 ········​<Synonym·​lang="nl">Histidinuri​e</​Synonym>315627 ········​<Synonym·​lang="nl">Histidinuri​e</​Synonym>
315714 ········​<Synonym·​lang="nl">Hyperhistid​inemie</​Synonym>315628 ········​<Synonym·​lang="nl">Hyperhistid​inemie</​Synonym>
315715 ······​</​SynonymList>315629 ······​</​SynonymList>
317685 ····​<Disorder·​id="3374">317599 ····​<Disorder·​id="3374">
317686 ······​<OrphaCode>2880</​OrphaCode>317600 ······​<OrphaCode>2880</​OrphaCode>
317687 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2880</​ExpertLink>317601 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=2880</​ExpertLink>
317688 ······​<Name·​lang="nl">Fosfo-​enolpyruvaat-​carboxykinasedeficiën​tie</​Name>317602 ······​<Name·​lang="nl">Deficiëntie​·van·fosfo-​enolpyruvaat-​carboxykinase</​Name>
317689 ······​<DisorderFlagList·​count="1">317603 ······​<DisorderFlagList·​count="1">
317690 ········​<DisorderFlag·​id="475">317604 ········​<DisorderFlag·​id="475">
317691 ··········​<Value>1</​Value>317605 ··········​<Value>1</​Value>
317765 ··········​<TargetDisorder·​id="3374"·​cycle="true"/​>317679 ··········​<TargetDisorder·​id="3374"·​cycle="true"/​>
317766 ··········​<RootDisorder·​id="11342">317680 ··········​<RootDisorder·​id="11342">
317767 ············​<OrphaCode>79316</​OrphaCode>317681 ············​<OrphaCode>79316</​OrphaCode>
317768 ············​<Name·​lang="nl">OBSOLEET:​·Fosfo-​enolpyruvaatcarboxyki​nase·​1-​deficiëntie</​Name>317682 ············​<Name·​lang="nl">OBSOLEET:​·Deficiëntie·van·fosfo-​enolpyruvaat-​carboxykinase·​1</​Name>
317769 ··········​</​RootDisorder>317683 ··········​</​RootDisorder>
317770 ··········​<DisorderDisorderAsso​ciationType·​id="27341">317684 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
317771 ············​<Name·​lang="nl">Referred·​to</​Name>317685 ············​<Name·​lang="nl">Referred·​to</​Name>
317775 ··········​<TargetDisorder·​id="3374"·​cycle="true"/​>317689 ··········​<TargetDisorder·​id="3374"·​cycle="true"/​>
317776 ··········​<RootDisorder·​id="11343">317690 ··········​<RootDisorder·​id="11343">
317777 ············​<OrphaCode>79317</​OrphaCode>317691 ············​<OrphaCode>79317</​OrphaCode>
317778 ············​<Name·​lang="nl">OBSOLEET:​·Fosfo-​enolpyruvaatcarboxyki​nase·​2-​deficiëntie</​Name>317692 ············​<Name·​lang="nl">OBSOLEET:​·Deficiëntie·van·fosfo-​enolpyruvaat-​carboxykinase·​2</​Name>
317779 ··········​</​RootDisorder>317693 ··········​</​RootDisorder>
317780 ··········​<DisorderDisorderAsso​ciationType·​id="27341">317694 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
317781 ············​<Name·​lang="nl">Referred·​to</​Name>317695 ············​<Name·​lang="nl">Referred·​to</​Name>
320639 ····​<Disorder·​id="18932">320553 ····​<Disorder·​id="18932">
320640 ······​<OrphaCode>221043</​OrphaCode>320554 ······​<OrphaCode>221043</​OrphaCode>
320641 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=221043</​ExpertLink>320555 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=221043</​ExpertLink>
320642 ······​<Name·​lang="nl">Erfelijke·​fibroserende·​poikilodermie·​-​·​peescontracturen·​-​·​myopathie·​-​·pulmonale·fibrose-​syndroom</​Name>320556 ······​<Name·​lang="nl">Erfelijke·​fibroserende·​poikilodermie·​-​·​peescontracturen·​-​·​myopathie·​-​·​longfibrose-​syndroom</​Name>
320643 ······​<DisorderFlagList·​count="1">320557 ······​<DisorderFlagList·​count="1">
320644 ········​<DisorderFlag·​id="475">320558 ········​<DisorderFlag·​id="475">
320645 ··········​<Value>1</​Value>320559 ··········​<Value>1</​Value>
322772 ······​</​ExternalReferenceList​>322686 ······​</​ExternalReferenceList​>
322773 ······​<DisorderDisorderAsso​ciationList·​count="0">322687 ······​<DisorderDisorderAsso​ciationList·​count="0">
322774 ······​</​DisorderDisorderAssoc​iationList>322688 ······​</​DisorderDisorderAssoc​iationList>
322775 ······​<SummaryInformationLi​st·​count="0">322689 ······​<SummaryInformationLi​st·​count="1">
322690 ········​<SummaryInformation·​id="128996"·​lang="nl">
322691 ··········​<TextSectionList·​count="1">
322692 ············​<TextSection·​id="167920"·​lang="nl">
322693 ··············​<TextSectionType·​id="16907">
322694 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
322695 ··············​</​TextSectionType>
322696 ··············​<Contents>Een·​zeldzame·​kiemceltumor,​·​gekarakteriseerd·​door·​verschillende·​patronen·​die·​endodermale·​extra-​embryonale·​differentiatie·​(secundaire·​dooierzak·​en·​allantoïs)​·​of·​endodermale·​somatische·​weefsels·​(darm,​·​lever,​·​en·​mesenchym)​·​weerspiegelen.​·​De·​tumoren·​treden·​doorgaans·​op·​in·​het·​tweede·​of·​derde·​levensdecennium.​·​Doorgaans·​zijn·​ze·​gesitueerd·​in·​de·​gonaden,​·​maar·​soms·​ook·​in·​andere·​lichaamsdelen.​·​Patiënten·​present·​eren·​zich·​met·​een·​massa·​in·​het·​bekken·​en/​of·​abdominale·​pijn·​(vrouwen)​·​of·​een·​vaak·​pijnloze,​·​unilaterale·​massa·​in·​een·​teelbal·​(mannen)​.​·​Verhoogd·​gehalte·​van·​alfafoetoproteïne·​is·​een·​gangbare·​laboratoriumbevinding​.​</​Contents>
322697 ············​</​TextSection>
322698 ··········​</​TextSectionList>
322699 ········​</​SummaryInformation>
322776 ······​</​SummaryInformationLis​t>322700 ······​</​SummaryInformationLis​t>
322777 ····​</​Disorder>322701 ····​</​Disorder>
322778 ····​<Disorder·​id="19057">322702 ····​<Disorder·​id="19057">
323981 ······​<DisorderGroup·​id="36547">323905 ······​<DisorderGroup·​id="36547">
323982 ········​<Name·​lang="nl">Aandoening<​/​Name>323906 ········​<Name·​lang="nl">Aandoening<​/​Name>
323983 ······​</​DisorderGroup>323907 ······​</​DisorderGroup>
323984 ······​<ExternalReferenceLis​t·​count="11">323908 ······​<ExternalReferenceLis​t·​count="12">
323985 ········​<ExternalReference·​id="145480">323909 ········​<ExternalReference·​id="145480">
323986 ··········​<Source>GARD</​Source>323910 ··········​<Source>GARD</​Source>
323987 ··········​<Reference>4894</​Reference>323911 ··········​<Reference>4894</​Reference>
324015 ············​<Name·​lang="nl">Gevalideerd​</​Name>323939 ············​<Name·​lang="nl">Gevalideerd​</​Name>
324016 ··········​</​DisorderMappingValida​tionStatus>323940 ··········​</​DisorderMappingValida​tionStatus>
324017 ········​</​ExternalReference>323941 ········​</​ExternalReference>
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323943 ··········​<Source>ICD-​10</​Source>
323944 ··········​<Reference>C91.​8</​Reference>
323945 ··········​<DisorderMappingRelat​ion·​id="21541">
323946 ············​<Name·​lang="nl">BTNT·​(Bredere·​Term·​van·​ORPHA-​code·​mapt·​naar·​een·​Nauwere·​Term)​</​Name>
323947 ··········​</​DisorderMappingRelati​on>
323948 ··········​<DisorderMappingICDRe​lation·​id="21583">
323949 ············​<Name·​lang="nl">Inclusieter​m·​(De·​ORPHA-​code·​is·​opgenomen·​in·​een·​ICD10-​categorie·​en·​heeft·​geen·​eigen·​code)​</​Name>
323950 ··········​</​DisorderMappingICDRel​ation>
323951 ··········​<DisorderMappingValid​ationStatus·​id="21611">
323952 ············​<Name·​lang="nl">Gevalideerd​</​Name>
323953 ··········​</​DisorderMappingValida​tionStatus>
323954 ········​</​ExternalReference>
324018 ········​<ExternalReference·​id="112356">323955 ········​<ExternalReference·​id="112356">
324019 ··········​<Source>MedDRA</​Source>323956 ··········​<Source>MedDRA</​Source>
324020 ··········​<Reference>10006595</​Reference>323957 ··········​<Reference>10006595</​Reference>
324048 ············​<Name·​lang="nl">Gevalideerd​</​Name>323985 ············​<Name·​lang="nl">Gevalideerd​</​Name>
324049 ··········​</​DisorderMappingValida​tionStatus>323986 ··········​</​DisorderMappingValida​tionStatus>
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324052 ··········​<Source>ICD-​10</​Source>323989 ··········​<Source>ICD-​10</​Source>
324053 ··········​<Reference>C83.​7</​Reference>323990 ··········​<Reference>C83.​7</​Reference>
324054 ··········​<DisorderMappingRelat​ion·​id="21527">323991 ··········​<DisorderMappingRelat​ion·​id="21541">
324055 ············​<Name·​lang="nl">exacte·overeenkomst·(de·termen·en·concepten·zijn·equivalent)​</​Name>323992 ············​<Name·​lang="nl">BTNT·(Bredere·Term·van·ORPHA-​code·mapt·naar·een·Nauwere·Term)​</​Name>
324056 ··········​</​DisorderMappingRelati​on>323993 ··········​</​DisorderMappingRelati​on>
324057 ··········​<DisorderMappingICDRe​lation·​id="21583">323994 ··········​<DisorderMappingICDRe​lation·​id="21583">
324058 ············​<Name·​lang="nl">Inclusieter​m·​(De·​ORPHA-​code·​is·​opgenomen·​in·​een·​ICD10-​categorie·​en·​heeft·​geen·​eigen·​code)​</​Name>323995 ············​<Name·​lang="nl">Inclusieter​m·​(De·​ORPHA-​code·​is·​opgenomen·​in·​een·​ICD10-​categorie·​en·​heeft·​geen·​eigen·​code)​</​Name>
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324457 ······​<DisorderDisorderAsso​ciationList·​count="0">324394 ······​<DisorderDisorderAsso​ciationList·​count="0">
324458 ······​</​DisorderDisorderAssoc​iationList>324395 ······​</​DisorderDisorderAssoc​iationList>
324459 ······​<SummaryInformationLi​st·​count="0">324396 ······​<SummaryInformationLi​st·​count="1">
324397 ········​<SummaryInformation·​id="129111"·​lang="nl">
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324399 ············​<TextSection·​id="167964"·​lang="nl">
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324401 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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324403 ··············​<Contents>Een·​zeldzame,​·​genetische·​gynaecologische·​tumor,​·​gekarakteriseerd·​door·​vroeg·​optredende·​borstkanker·​in·​associatie·​met·​een·​kiembaanmutatie.​·​Tumoren·​die·​ontstaan·​bij·​dragers·​van·​mutaties·​in·​&lt;​i&gt;​BRCA1&lt;​/​i&gt;​·​en·​&lt;​i&gt;​BRCA2&lt;​/​i&gt;​·​verschillen·​morfologisch·​en·​genetisch·​van·​elkaar,​·​alsook·​van·​sporadische·​borstkankers.​·​De·​meeste·​&lt;​i&gt;​BRCA1&lt;​/​i&gt;​-​geassocieerde·​tumoren·​zijn·​invasieve·​ductale·​adenocarcinomen·​van·​geen·​bepaald·​type,​·​doorgaans·​met·​een·​hogere·​graad·​dan·​sporadische·​tumoren,​·​en·​vaker·​negatief·​voor·​hormoonreceptoren.​·​Daarenboven·​worden·​bij·​deze·​patiënten·​meer·​gevallen·​met·​kenmerken·​van·​typisch·​of·​atypisch·​medullair·​carcinoom·​waargenomen.​·​Ook·​&lt;​i&gt;​BRCA2&lt;​/​i&gt;​-​geassocieerde·​tumoren·​hebben·​eerder·​een·​hogere·​graad·​dan·​sporadische·​tumoren,​·​hoewel·​hun·​fenotypes·​gelijkaardig·​zijn.​·​Deze·​tumoren·​tonen·​weinig·​expressie·​van·​HER-​2.​</​Contents>
324404 ············​</​TextSection>
324405 ··········​</​TextSectionList>
324406 ········​</​SummaryInformation>
324460 ······​</​SummaryInformationLis​t>324407 ······​</​SummaryInformationLis​t>
324461 ····​</​Disorder>324408 ····​</​Disorder>
324462 ····​<Disorder·​id="3758">324409 ····​<Disorder·​id="3758">
324916 ··········​</​DisorderMappingValida​tionStatus>324863 ··········​</​DisorderMappingValida​tionStatus>
324917 ········​</​ExternalReference>324864 ········​</​ExternalReference>
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324919 ······​<DisorderDisorderAsso​ciationList·​count="0">324866 ······​<DisorderDisorderAsso​ciationList·​count="1">
324867 ········​<DisorderDisorderAsso​ciation>
324868 ··········​<TargetDisorder·​id="19029"·​cycle="true"/​>
324869 ··········​<RootDisorder·​id="19034">
324870 ············​<OrphaCode>226310</​OrphaCode>
324871 ············​<Name·​lang="nl">Perifere·​hypthyreoïdie</​Name>
324872 ··········​</​RootDisorder>
324873 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
324874 ············​<Name·​lang="nl">Referred·​to</​Name>
324875 ··········​</​DisorderDisorderAssoc​iationType>
324876 ········​</​DisorderDisorderAssoc​iation>
324920 ······​</​DisorderDisorderAssoc​iationList>324877 ······​</​DisorderDisorderAssoc​iationList>
324921 ······​<SummaryInformationLi​st·​count="1">324878 ······​<SummaryInformationLi​st·​count="0">
324922 ········<SummaryInformation·id="-​1"·lang="nl">
324923 ··········<TextSectionList·count="0">
324924 ··········</​TextSectionList>
324925 ··········<TextAuto>
324926 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
324927 ··········</​TextAuto>
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324930 ····​</​Disorder>324880 ····​</​Disorder>
324931 ····​<Disorder·​id="3732">324881 ····​<Disorder·​id="3732">
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325180 ······​<SummaryInformationLi​st·​count="1">325130 ······​<SummaryInformationLi​st·​count="0">
325181 ········<SummaryInformation·id="-​1"·lang="nl">
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325184 ··········<TextAuto>
325185 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
325186 ··········</​TextAuto>
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325190 ····​<Disorder·​id="3734">325133 ····​<Disorder·​id="3734">
325432 ······​</​ExternalReferenceList​>325375 ······​</​ExternalReferenceList​>
325433 ······​<DisorderDisorderAsso​ciationList·​count="0">325376 ······​<DisorderDisorderAsso​ciationList·​count="0">
325434 ······​</​DisorderDisorderAssoc​iationList>325377 ······​</​DisorderDisorderAssoc​iationList>
325435 ······​<SummaryInformationLi​st·​count="1">325378 ······​<SummaryInformationLi​st·​count="0">
325436 ········<SummaryInformation·id="-​1"·lang="nl">
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325439 ··········<TextAuto>
325440 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
325441 ··········</​TextAuto>
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325444 ····​</​Disorder>325380 ····​</​Disorder>
325445 ····​<Disorder·​id="3728">325381 ····​<Disorder·​id="3728">
325890 ····​<Disorder·​id="3737">325826 ····​<Disorder·​id="3737">
325891 ······​<OrphaCode>3148</​OrphaCode>325827 ······​<OrphaCode>3148</​OrphaCode>
325892 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=3148</​ExpertLink>325828 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=3148</​ExpertLink>
325893 ······​<Name·​lang="nl">Maligne·​perifere·​zenuwschedetumor</​Name>325829 ······​<Name·​lang="nl">Maligne·tumor·van·​perifere·​zenuwschede</​Name>
325894 ······​<DisorderFlagList·​count="1">325830 ······​<DisorderFlagList·​count="1">
325895 ········​<DisorderFlag·​id="475">325831 ········​<DisorderFlag·​id="475">
325896 ··········​<Value>1</​Value>325832 ··········​<Value>1</​Value>
326136 ··········​<Value>8192</​Value>326072 ··········​<Value>8192</​Value>
326137 ··········​<Label>Inactive</​Label>326073 ··········​<Label>Inactive</​Label>
326138 ········​</​DisorderFlag>326074 ········​</​DisorderFlag>
326139 ········​<DisorderFlag·​id="461">326075 ········​<DisorderFlag·​id="455">
326140 ··········​<Value>1024</​Value>326076 ··········​<Value>16</​Value>
326141 ··········​<Label>Obsolete·with·resources</​Label>326077 ··········​<Label>Obsolete·​entity</​Label>
326142 ········​</​DisorderFlag>326078 ········​</​DisorderFlag>
326143 ······​</​DisorderFlagList>326079 ······​</​DisorderFlagList>
326144 ······​<SynonymList·​count="0">326080 ······​<SynonymList·​count="0">
326151 ······​</​DisorderGroup>326087 ······​</​DisorderGroup>
326152 ······​<ExternalReferenceLis​t·​count="0">326088 ······​<ExternalReferenceLis​t·​count="0">
326153 ······​</​ExternalReferenceList​>326089 ······​</​ExternalReferenceList​>
326154 ······​<DisorderDisorderAsso​ciationList·​count="0">326090 ······​<DisorderDisorderAsso​ciationList·​count="1">
326091 ········​<DisorderDisorderAsso​ciation>
326092 ··········​<TargetDisorder·​id="19029">
326093 ············​<OrphaCode>226292</​OrphaCode>
326094 ············​<Name·​lang="nl">Permanente·​congenitale·​hypothyreoïdie</​Name>
326095 ··········​</​TargetDisorder>
326096 ··········​<RootDisorder·​id="19034"·​cycle="true"/​>
326097 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
326098 ············​<Name·​lang="nl">Referred·​to</​Name>
326099 ··········​</​DisorderDisorderAssoc​iationType>
326100 ········​</​DisorderDisorderAssoc​iation>
326155 ······​</​DisorderDisorderAssoc​iationList>326101 ······​</​DisorderDisorderAssoc​iationList>
326156 ······​<SummaryInformationLi​st·​count="0">326102 ······​<SummaryInformationLi​st·​count="1">
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326106 ··········​<TextAuto>
326107 ············​<Info·​lang="nl">Deze·​entiteit·​werd·​obsoleet·​gemaakt·​in·​de·​nomenclatuur·​van·​zeldzame·​ziekten·​van·​Orphanet.​&lt;​br/​&gt;​&lt;​br/​&gt;​Deze·​term·​is·​niet·​kenmerkend·​voor·​één·​ziekte·​maar·​voor·​een·​groep·​van·​ziekten.​·​Om·​meer·​te·​leren·​over·​de·​ziekten·​die·​overeenkomen·​met·​deze·​term,​·​kan·​u·​de·​classificatie·​raadplegen.​&lt;​br/​&gt;​&lt;​br/​&gt;​Overweeg·​in·​plaats·​daarvan··​Permanente·​congenitale·​hypothyreoïdie</​Info>
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326159 ····​<Disorder·​id="3739">326112 ····​<Disorder·​id="3739">
328722 ····​<Disorder·​id="19123">328675 ····​<Disorder·​id="19123">
328723 ······​<OrphaCode>228396</​OrphaCode>328676 ······​<OrphaCode>228396</​OrphaCode>
328724 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=228396</​ExpertLink>328677 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=228396</​ExpertLink>
328725 ······​<Name·​lang="nl">Ptose·​-​·​bovenste·​oculaire·​bewegingsbeperking·​-​·​afwezigheid·van·traanpunt-​syndroom</​Name>328678 ······​<Name·​lang="nl">Ptosis·​-​·​bovenste·​oculaire·​bewegingsbeperking·​-​·​agenesie·van·punctum·lacrimale-​syndroom</​Name>
328726 ······​<DisorderFlagList·​count="1">328679 ······​<DisorderFlagList·​count="1">
328727 ········​<DisorderFlag·​id="475">328680 ········​<DisorderFlag·​id="475">
328728 ··········​<Value>1</​Value>328681 ··········​<Value>1</​Value>
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329186 ······​<DisorderDisorderAsso​ciationList·​count="0">329139 ······​<DisorderDisorderAsso​ciationList·​count="0">
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329188 ······​<SummaryInformationLi​st·​count="1">329141 ······​<SummaryInformationLi​st·​count="0">
329189 ········<SummaryInformation·id="-​1"·lang="nl">
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329192 ··········<TextAuto>
329193 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
329194 ··········</​TextAuto>
329195 ········</​SummaryInformation>
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329197 ····​</​Disorder>329143 ····​</​Disorder>
329198 ····​<Disorder·​id="19125">329144 ····​<Disorder·​id="19125">
330332 ····​<Disorder·​id="19096">330278 ····​<Disorder·​id="19096">
330333 ······​<OrphaCode>228290</​OrphaCode>330279 ······​<OrphaCode>228290</​OrphaCode>
330334 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=228290</​ExpertLink>330280 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=228290</​ExpertLink>
330335 ······​<Name·​lang="nl">Witte·​vezelige·​papulose·​van·de·​hals</​Name>330281 ······​<Name·​lang="nl">Witte·​vezelige·​papulose·​van·​hals</​Name>
330336 ······​<DisorderFlagList·​count="1">330282 ······​<DisorderFlagList·​count="1">
330337 ········​<DisorderFlag·​id="475">330283 ········​<DisorderFlag·​id="475">
330338 ··········​<Value>1</​Value>330284 ··········​<Value>1</​Value>
330639 ····​<Disorder·​id="19102">330585 ····​<Disorder·​id="19102">
330640 ······​<OrphaCode>228312</​OrphaCode>330586 ······​<OrphaCode>228312</​OrphaCode>
330641 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=228312</​ExpertLink>330587 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=228312</​ExpertLink>
330642 ······​<Name·​lang="nl">Auto-​immune·​hemolytische·​anemie,​·​koud·​type</​Name>330588 ······​<Name·​lang="nl">Auto-​immuun·​hemolytische·​anemie,​·​koud·​type</​Name>
330643 ······​<DisorderFlagList·​count="1">330589 ······​<DisorderFlagList·​count="1">
330644 ········​<DisorderFlag·​id="475">330590 ········​<DisorderFlag·​id="475">
330645 ··········​<Value>1</​Value>330591 ··········​<Value>1</​Value>
330685 ······​</​ExternalReferenceList​>330631 ······​</​ExternalReferenceList​>
330686 ······​<DisorderDisorderAsso​ciationList·​count="0">330632 ······​<DisorderDisorderAsso​ciationList·​count="0">
330687 ······​</​DisorderDisorderAssoc​iationList>330633 ······​</​DisorderDisorderAssoc​iationList>
330688 ······​<SummaryInformationLi​st·​count="1">330634 ······​<SummaryInformationLi​st·​count="0">
330689 ········<SummaryInformation·id="-​1"·lang="nl">
330690 ··········<TextSectionList·count="0">
330691 ··········</​TextSectionList>
330692 ··········<TextAuto>
330693 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
330694 ··········</​TextAuto>
330695 ········</​SummaryInformation>
330696 ······​</​SummaryInformationLis​t>330635 ······​</​SummaryInformationLis​t>
330697 ····​</​Disorder>330636 ····​</​Disorder>
330698 ····​<Disorder·​id="19103">330637 ····​<Disorder·​id="19103">
330744 ····​<Disorder·​id="19088">330683 ····​<Disorder·​id="19088">
330745 ······​<OrphaCode>228240</​OrphaCode>330684 ······​<OrphaCode>228240</​OrphaCode>
330746 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=228240</​ExpertLink>330685 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=228240</​ExpertLink>
330747 ······​<Name·​lang="nl">Elastodermi​e</​Name>330686 ······​<Name·​lang="nl">Elastoderma​</​Name>
330748 ······​<DisorderFlagList·​count="1">330687 ······​<DisorderFlagList·​count="1">
330749 ········​<DisorderFlag·​id="475">330688 ········​<DisorderFlag·​id="475">
330750 ··········​<Value>1</​Value>330689 ··········​<Value>1</​Value>
337994 ····​<Disorder·​id="19146">337933 ····​<Disorder·​id="19146">
337995 ······​<OrphaCode>231013</​OrphaCode>337934 ······​<OrphaCode>231013</​OrphaCode>
337996 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=231013</​ExpertLink>337935 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=231013</​ExpertLink>
337997 ······​<Name·​lang="nl">Congenitale​·trigeminus-​anesthesie</​Name>337936 ······​<Name·​lang="nl">Congenitale​·anesthesie·van·nervus·trigeminus</​Name>
337998 ······​<DisorderFlagList·​count="1">337937 ······​<DisorderFlagList·​count="1">
337999 ········​<DisorderFlag·​id="475">337938 ········​<DisorderFlag·​id="475">
338000 ··········​<Value>1</​Value>337939 ··········​<Value>1</​Value>
338001 ··········​<Label></​Label>337940 ··········​<Label></​Label>
338002 ········​</​DisorderFlag>337941 ········​</​DisorderFlag>
338003 ······​</​DisorderFlagList>337942 ······​</​DisorderFlagList>
338004 ······​<SynonymList·​count="0">337943 ······​<SynonymList·​count="1">
337944 ········​<Synonym·​lang="nl">Aangeboren·​gevoelloosheid·​van·​drielingzenuw</​Synonym>
338005 ······​</​SynonymList>337945 ······​</​SynonymList>
338006 ······​<DisorderType·​id="21394">337946 ······​<DisorderType·​id="21394">
338007 ········​<Name·​lang="nl">Ziekte</​Name>337947 ········​<Name·​lang="nl">Ziekte</​Name>
338796 ······​</​ExternalReferenceList​>338736 ······​</​ExternalReferenceList​>
338797 ······​<DisorderDisorderAsso​ciationList·​count="0">338737 ······​<DisorderDisorderAsso​ciationList·​count="0">
338798 ······​</​DisorderDisorderAssoc​iationList>338738 ······​</​DisorderDisorderAssoc​iationList>
338799 ······​<SummaryInformationLi​st·​count="0">338739 ······​<SummaryInformationLi​st·​count="1">
338740 ········​<SummaryInformation·​id="129006"·​lang="nl">
338741 ··········​<TextSectionList·​count="1">
338742 ············​<TextSection·​id="167930"·​lang="nl">
338743 ··············​<TextSectionType·​id="16907">
338744 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
338745 ··············​</​TextSectionType>
338746 ··············​<Contents>Een·​zeldzame·​hereditaire·​amyloïdose·​met·​primaire·​betrokkenheid·​van·​nier,​·​gekarakteriseerd·​door·​variabele·​aanvang·​van·​nierinsufficiëntie·​met·​oedeem,​·​hypertensie,​·​proteïnurie·​en·​azotemie,​·​met·​uiteindelijk·​terminaal·​nierfalen·​tot·​gevolg.​·​Amyloïdcardiomyopathi​e·​en·​histopathologisch·​bewijs·​van·​depositie·​van·​amyloïd·​in·​andere·​organen,​·​zoals·​onder·​meer·​milt,​·​lever,​·​bijnier·​en·​pancreas,​·​werden·​ook·​reeds·​beschreven.​</​Contents>
338747 ············​</​TextSection>
338748 ··········​</​TextSectionList>
338749 ········​</​SummaryInformation>
338800 ······​</​SummaryInformationLis​t>338750 ······​</​SummaryInformationLis​t>
338801 ····​</​Disorder>338751 ····​</​Disorder>
338802 ····​<Disorder·​id="19263">338752 ····​<Disorder·​id="19263">
341164 ······​</​ExternalReferenceList​>341114 ······​</​ExternalReferenceList​>
341165 ······​<DisorderDisorderAsso​ciationList·​count="0">341115 ······​<DisorderDisorderAsso​ciationList·​count="0">
341166 ······​</​DisorderDisorderAssoc​iationList>341116 ······​</​DisorderDisorderAssoc​iationList>
341167 ······​<SummaryInformationLi​st·​count="1">341117 ······​<SummaryInformationLi​st·​count="0">
341168 ········<SummaryInformation·id="-​1"·lang="nl">
341169 ··········<TextSectionList·count="0">
341170 ··········</​TextSectionList>
341171 ··········<TextAuto>
341172 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
341173 ··········</​TextAuto>
341174 ········</​SummaryInformation>
341175 ······​</​SummaryInformationLis​t>341118 ······​</​SummaryInformationLis​t>
341176 ····​</​Disorder>341119 ····​</​Disorder>
341177 ····​<Disorder·​id="19297">341120 ····​<Disorder·​id="19297">
341209 ······​</​ExternalReferenceList​>341152 ······​</​ExternalReferenceList​>
341210 ······​<DisorderDisorderAsso​ciationList·​count="0">341153 ······​<DisorderDisorderAsso​ciationList·​count="0">
341211 ······​</​DisorderDisorderAssoc​iationList>341154 ······​</​DisorderDisorderAssoc​iationList>
341212 ······​<SummaryInformationLi​st·​count="1">341155 ······​<SummaryInformationLi​st·​count="0">
341213 ········<SummaryInformation·id="-​1"·lang="nl">
341214 ··········<TextSectionList·count="0">
341215 ··········</​TextSectionList>
341216 ··········<TextAuto>
341217 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
341218 ··········</​TextAuto>
341219 ········</​SummaryInformation>
341220 ······​</​SummaryInformationLis​t>341156 ······​</​SummaryInformationLis​t>
341221 ····​</​Disorder>341157 ····​</​Disorder>
341222 ····​<Disorder·​id="19298">341158 ····​<Disorder·​id="19298">
341563 ····​<Disorder·​id="19269">341499 ····​<Disorder·​id="19269">
341564 ······​<OrphaCode>238505</​OrphaCode>341500 ······​<OrphaCode>238505</​OrphaCode>
341565 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=238505</​ExpertLink>341501 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=238505</​ExpertLink>
341566 ······​<Name·​lang="nl">Autosomaal·recessieve·lymfoproliferatieve·ziekte</​Name>341502 ······​<Name·​lang="nl">Gecombineer​de·immuundeficiëntie·door·deficiëntie·van·CD27</​Name>
341567 ······​<DisorderFlagList·​count="1">341503 ······​<DisorderFlagList·​count="1">
341568 ········​<DisorderFlag·​id="475">341504 ········​<DisorderFlag·​id="475">
341569 ··········​<Value>1</​Value>341505 ··········​<Value>1</​Value>
341570 ··········​<Label></​Label>341506 ··········​<Label></​Label>
341571 ········​</​DisorderFlag>341507 ········​</​DisorderFlag>
341572 ······​</​DisorderFlagList>341508 ······​</​DisorderFlagList>
341573 ······​<SynonymList·​count="1">341509 ······​<SynonymList·​count="2">
341510 ········​<Synonym·​lang="nl">Autosomaal·​recessieve·​lymfoproliferatieve·​ziekte·​door·​deficiëntie·​van·​CD27</​Synonym>
341574 ········​<Synonym·​lang="nl">CD27-​deficiëntie</​Synonym>341511 ········​<Synonym·​lang="nl">CD27-​deficiëntie</​Synonym>
341575 ······​</​SynonymList>341512 ······​</​SynonymList>
341576 ······​<DisorderType·​id="21394">341513 ······​<DisorderType·​id="21394">
344066 ······​</​ExternalReferenceList​>344003 ······​</​ExternalReferenceList​>
344067 ······​<DisorderDisorderAsso​ciationList·​count="0">344004 ······​<DisorderDisorderAsso​ciationList·​count="0">
344068 ······​</​DisorderDisorderAssoc​iationList>344005 ······​</​DisorderDisorderAssoc​iationList>
344069 ······​<SummaryInformationLi​st·​count="1">344006 ······​<SummaryInformationLi​st·​count="0">
344070 ········<SummaryInformation·id="-​1"·lang="nl">
344071 ··········<TextSectionList·count="0">
344072 ··········</​TextSectionList>
344073 ··········<TextAuto>
344074 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
344075 ··········</​TextAuto>
344076 ········</​SummaryInformation>
344077 ······​</​SummaryInformationLis​t>344007 ······​</​SummaryInformationLis​t>
344078 ····​</​Disorder>344008 ····​</​Disorder>
344079 ····​<Disorder·​id="21992">344009 ····​<Disorder·​id="21992">
344877 ····​<Disorder·​id="21958">344807 ····​<Disorder·​id="21958">
344878 ······​<OrphaCode>330012</​OrphaCode>344808 ······​<OrphaCode>330012</​OrphaCode>
344879 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=330012</​ExpertLink>344809 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=330012</​ExpertLink>
344880 ······​<Name·​lang="nl">Grote·hoogte·longoedeem</​Name>344810 ······​<Name·​lang="nl">Hoogtelongo​edeem</​Name>
344881 ······​<DisorderFlagList·​count="1">344811 ······​<DisorderFlagList·​count="1">
344882 ········​<DisorderFlag·​id="475">344812 ········​<DisorderFlag·​id="475">
344883 ··········​<Value>1</​Value>344813 ··········​<Value>1</​Value>
344885 ········​</​DisorderFlag>344815 ········​</​DisorderFlag>
344886 ······​</​DisorderFlagList>344816 ······​</​DisorderFlagList>
344887 ······​<SynonymList·​count="1">344817 ······​<SynonymList·​count="1">
344888 ········​<Synonym·​lang="nl">HAPE</​Synonym>344818 ········​<Synonym·​lang="nl">Longoedeem·door·hoogteziekte</​Synonym>
344889 ······​</​SynonymList>344819 ······​</​SynonymList>
344890 ······​<DisorderType·​id="21429">344820 ······​<DisorderType·​id="21429">
344891 ········​<Name·​lang="nl">Particulair​e·​klinische·​situatie·​binnen·​een·​ziekte·​of·​syndroom</​Name>344821 ········​<Name·​lang="nl">Particulair​e·​klinische·​situatie·​binnen·​een·​ziekte·​of·​syndroom</​Name>
345016 ······​</​ExternalReferenceList​>344946 ······​</​ExternalReferenceList​>
345017 ······​<DisorderDisorderAsso​ciationList·​count="0">344947 ······​<DisorderDisorderAsso​ciationList·​count="0">
345018 ······​</​DisorderDisorderAssoc​iationList>344948 ······​</​DisorderDisorderAssoc​iationList>
345019 ······​<SummaryInformationLi​st·​count="1">344949 ······​<SummaryInformationLi​st·​count="0">
345020 ········<SummaryInformation·id="-​1"·lang="nl">
345021 ··········<TextSectionList·count="0">
345022 ··········</​TextSectionList>
345023 ··········<TextAuto>
345024 ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.​·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.​</​Info>
345025 ··········</​TextAuto>
345026 ········</​SummaryInformation>
345027 ······​</​SummaryInformationLis​t>344950 ······​</​SummaryInformationLis​t>
345028 ····​</​Disorder>344951 ····​</​Disorder>
345029 ····​<Disorder·​id="21957">344952 ····​<Disorder·​id="21957">
345398 ······​<SynonymList·​count="4">345321 ······​<SynonymList·​count="4">
345399 ········​<Synonym·​lang="nl">Erfelijke·​polymorfe·​lichteruptie·​van·​Amerikaanse·​Indianen</​Synonym>345322 ········​<Synonym·​lang="nl">Erfelijke·​polymorfe·​lichteruptie·​van·​Amerikaanse·​Indianen</​Synonym>
345400 ········​<Synonym·​lang="nl">Familiale·​polymorfe·​lichteruptie·​van·​Amerikaanse·​Indianen</​Synonym>345323 ········​<Synonym·​lang="nl">Familiale·​polymorfe·​lichteruptie·​van·​Amerikaanse·​Indianen</​Synonym>
345401 ········​<Synonym·​lang="nl">Hutchinsons​·​zomerprurigo</​Synonym>
345402 ········​<Synonym·​lang="nl">Hydroa·​aestivale</​Synonym>345324 ········​<Synonym·​lang="nl">Hydroa·​aestivale</​Synonym>
345325 ········​<Synonym·​lang="nl">Zomerprurig​o·​van·​Hutchinson</​Synonym>
345403 ······​</​SynonymList>345326 ······​</​SynonymList>
345404 ······​<DisorderType·​id="21394">345327 ······​<DisorderType·​id="21394">
345405 ········​<Name·​lang="nl">Ziekte</​Name>345328 ········​<Name·​lang="nl">Ziekte</​Name>
346280 ······​</​ExternalReferenceList​>346203 ······​</​ExternalReferenceList​>
346281 ······​<DisorderDisorderAsso​ciationList·​count="0">346204 ······​<DisorderDisorderAsso​ciationList·​count="0">
346282 ······​</​DisorderDisorderAssoc​iationList>346205 ······​</​DisorderDisorderAssoc​iationList>
346283 ······​<SummaryInformationLi​st·​count="1">346206 ······​<SummaryInformationLi​st·​count="0">
346284 ········<SummaryInformation·id="-​1"·lang="nl">
346285 ··········<TextSectionList·count="0">
346286 ··········</​TextSectionList>
346287 ··········<TextAuto>
346288 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
346289 ··········</​TextAuto>
346290 ········</​SummaryInformation>
346291 ······​</​SummaryInformationLis​t>346207 ······​</​SummaryInformationLis​t>
346292 ····​</​Disorder>346208 ····​</​Disorder>
346293 ····​<Disorder·​id="21947">346209 ····​<Disorder·​id="21947">
346431 ····​<Disorder·​id="21924">346347 ····​<Disorder·​id="21924">
346432 ······​<OrphaCode>329308</​OrphaCode>346348 ······​<OrphaCode>329308</​OrphaCode>
346433 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=329308</​ExpertLink>346349 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=329308</​ExpertLink>
346434 ······​<Name·​lang="nl">Vetzuurhydr​oxylasegeassocieerde·neurodegeneratie</​Name>346350 ······​<Name·​lang="nl">Neurodegene​ratie·geassocieerd·met·vetzuurhydroxylase</​Name>
346435 ······​<DisorderFlagList·​count="1">346351 ······​<DisorderFlagList·​count="1">
346436 ········​<DisorderFlag·​id="475">346352 ········​<DisorderFlag·​id="475">
346437 ··········​<Value>1</​Value>346353 ··········​<Value>1</​Value>
346672 ······​<SynonymList·​count="5">346588 ······​<SynonymList·​count="5">
346673 ········​<Synonym·​lang="nl">BPAN</​Synonym>346589 ········​<Synonym·​lang="nl">BPAN</​Synonym>
346674 ········​<Synonym·​lang="nl">NBIA5</​Synonym>346590 ········​<Synonym·​lang="nl">NBIA5</​Synonym>
346675 ········​<Synonym·​lang="nl">Neurodegene​ratie·​met·​ijzeropstapeling·​in·de·​hersenen·​type·​5</​Synonym>346591 ········​<Synonym·​lang="nl">Neurodegene​ratie·​met·​ijzeropstapeling·​in·​hersenen·​type·​5</​Synonym>
346676 ········​<Synonym·​lang="nl">SENDA</​Synonym>346592 ········​<Synonym·​lang="nl">SENDA</​Synonym>
346677 ········​<Synonym·​lang="nl">Statische·​encefalopathie·​in·​de·​kindertijd·​met·​neurodegeneratie·​in·​de·​volwassenheid</​Synonym>346593 ········​<Synonym·​lang="nl">Statische·​encefalopathie·​in·​de·​kindertijd·​met·​neurodegeneratie·​in·​de·​volwassenheid</​Synonym>
346678 ······​</​SynonymList>346594 ······​</​SynonymList>
352177 ··········​<Label></​Label>352093 ··········​<Label></​Label>
352178 ········​</​DisorderFlag>352094 ········​</​DisorderFlag>
352179 ······​</​DisorderFlagList>352095 ······​</​DisorderFlagList>
352180 ······​<SynonymList·​count="0">352096 ······​<SynonymList·​count="1">
352097 ········​<Synonym·​lang="nl">Sinusknoopd​isfunctie·​en·​gehoorverlies</​Synonym>
352181 ······​</​SynonymList>352098 ······​</​SynonymList>
352182 ······​<DisorderType·​id="21394">352099 ······​<DisorderType·​id="21394">
352183 ········​<Name·​lang="nl">Ziekte</​Name>352100 ········​<Name·​lang="nl">Ziekte</​Name>
352286 ··········​<Label></​Label>352203 ··········​<Label></​Label>
352287 ········​</​DisorderFlag>352204 ········​</​DisorderFlag>
352288 ······​</​DisorderFlagList>352205 ······​</​DisorderFlagList>
352289 ······​<SynonymList·​count="0">352206 ······​<SynonymList·​count="1">
352207 ········​<Synonym·​lang="nl">Ernstige·​laterale·​kromming·​van·​scheenbeen·​met·​kleine·​lichaamslengte</​Synonym>
352290 ······​</​SynonymList>352208 ······​</​SynonymList>
352291 ······​<DisorderType·​id="21394">352209 ······​<DisorderType·​id="21394">
352292 ········​<Name·​lang="nl">Ziekte</​Name>352210 ········​<Name·​lang="nl">Ziekte</​Name>
354855 ····​<Disorder·​id="21685">354773 ····​<Disorder·​id="21685">
354856 ······​<OrphaCode>319640</​OrphaCode>354774 ······​<OrphaCode>319640</​OrphaCode>
354857 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319640</​ExpertLink>354775 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319640</​ExpertLink>
354858 ······​<Name·​lang="nl">Retinale·​maculaire·dystrofie·​type·​2</​Name>354776 ······​<Name·​lang="nl">Retinale·​maculadystrofie·​type·​2</​Name>
354859 ······​<DisorderFlagList·​count="1">354777 ······​<DisorderFlagList·​count="1">
354860 ········​<DisorderFlag·​id="475">354778 ········​<DisorderFlag·​id="475">
354861 ··········​<Value>1</​Value>354779 ··········​<Value>1</​Value>
355332 ····​<Disorder·​id="21692">355250 ····​<Disorder·​id="21692">
355333 ······​<OrphaCode>319678</​OrphaCode>355251 ······​<OrphaCode>319678</​OrphaCode>
355334 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319678</​ExpertLink>355252 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319678</​ExpertLink>
355335 ······​<Name·​lang="nl">Encefalopat​hie·​-​·​hypertrofische·​cardiomyopathie·​-​·renale·​tubulaire·​ziekte-​syndroom</​Name>355253 ······​<Name·​lang="nl">Encefalopat​hie·​-​·​hypertrofische·​cardiomyopathie·​-​·​tubulaire·nierziekte-​syndroom</​Name>
355336 ······​<DisorderFlagList·​count="1">355254 ······​<DisorderFlagList·​count="1">
355337 ········​<DisorderFlag·​id="475">355255 ········​<DisorderFlag·​id="475">
355338 ··········​<Value>1</​Value>355256 ··········​<Value>1</​Value>
355501 ··············​<TextSectionType·​id="16907">355419 ··············​<TextSectionType·​id="16907">
355502 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>355420 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
355503 ··············​</​TextSectionType>355421 ··············​</​TextSectionType>
355504 ··············​<Contents>Microcefale​·​primordiale·​dwerggroei,​·Alazami-​type,​·is·een·zeldzaam,​·​genetisch·syndroom·met·een·ontwikkelingsdefect·tijdens·de·embryogenese,​·en·wordt·gekarakteriseerd·door·ernstige·​intellectuele·​achterstand,​·typische·​dysmorfe·​gelaatskenmerken·​(i.​e.​·driehoekig·gelaat·met·​prominent·​voorhoofd,​·smalle·ooglidspleten,​·​diepliggende·​ogen,​·​laagstaande·​oren,​·​brede·​neus,​·malaire·​hypoplasie,​·kort·filtrum,​·macrostomie,​·​ver·uit·elkaar·staande·tanden)​·en·pre-​·en·postnataal·proportioneel·kleine·gestalte,​·gaande·van·primordiale·dwerggroei·(lengte·onder·-​3.​5·SD)​·tot·een·milder·fenotype·met·​minder·ernstige·groeirestrictie·(lengte·onder·-​2.​5·SD)​.​·Andere·kenmerken·die·werden·gerapporteerd,​·zijn·onder·meer·skeletafwijkingen·(e.​g.​·scoliose)​,​·microcefalie,​·onvrijwillige·handbewegingen,​·hypersensitiviteit·voor·stimuli,​·en·gedragsproblemen·zoals·angst.​</​Contents>355422 ··············​<Contents>Een·zeldzame·vorm·van·​primordiale·​dwerggroei,​·vaak·microcefaal,​·​gekarakteriseerd·door·kleine·gestalte,​·algehele·ontwikkelingsachterst​and,​·variabele·​intellectuele·​achterstand,​·en·herkenbare·​dysmorfe·​gelaatskenmerken·​(driehoekig·aangezicht,​·​prominent·​voorhoofd,​·​diepliggende·​ogen,​·​laagstaande·​oren,​·​brede·​neus,​·​hypoplasie·​van·jukbeenderen,​·brede·​mond,​·​dikke·lippen,​·en·ver·uit·​elkaar·​staande·​tanden)​.​</​Contents>
355505 ············​</​TextSection>355423 ············​</​TextSection>
355506 ··········​</​TextSectionList>355424 ··········​</​TextSectionList>
355507 ········​</​SummaryInformation>355425 ········​</​SummaryInformation>
355946 ····​<Disorder·​id="21634">355864 ····​<Disorder·​id="21634">
355947 ······​<OrphaCode>319247</​OrphaCode>355865 ······​<OrphaCode>319247</​OrphaCode>
355948 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319247</​ExpertLink>355866 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319247</​ExpertLink>
355949 ······​<Name·​lang="nl">Hantavirus·pulmonair·syndroom</​Name>355867 ······​<Name·​lang="nl">Pulmonaal·syndroom·door·hantavirus</​Name>
355950 ······​<DisorderFlagList·​count="1">355868 ······​<DisorderFlagList·​count="1">
355951 ········​<DisorderFlag·​id="475">355869 ········​<DisorderFlag·​id="475">
355952 ··········​<Value>1</​Value>355870 ··········​<Value>1</​Value>
356655 ······​</​ExternalReferenceList​>356573 ······​</​ExternalReferenceList​>
356656 ······​<DisorderDisorderAsso​ciationList·​count="0">356574 ······​<DisorderDisorderAsso​ciationList·​count="0">
356657 ······​</​DisorderDisorderAssoc​iationList>356575 ······​</​DisorderDisorderAssoc​iationList>
356658 ······​<SummaryInformationLi​st·​count="1">356576 ······​<SummaryInformationLi​st·​count="0">
356659 ········<SummaryInformation·id="-​1"·lang="nl">
356660 ··········<TextSectionList·count="0">
356661 ··········</​TextSectionList>
356662 ··········<TextAuto>
356663 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
356664 ··········</​TextAuto>
356665 ········</​SummaryInformation>
356666 ······​</​SummaryInformationLis​t>356577 ······​</​SummaryInformationLis​t>
356667 ····​</​Disorder>356578 ····​</​Disorder>
356668 ····​<Disorder·​id="21650">356579 ····​<Disorder·​id="21650">
357049 ····​<Disorder·​id="21659">356960 ····​<Disorder·​id="21659">
357050 ······​<OrphaCode>319465</​OrphaCode>356961 ······​<OrphaCode>319465</​OrphaCode>
357051 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319465</​ExpertLink>356962 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319465</​ExpertLink>
357052 ······​<Name·​lang="nl">Overgeërfde​·​acute·​myeloïde·​leukemie</​Name>356963 ······​<Name·​lang="nl">Erfelijke·​acute·​myeloïde·​leukemie</​Name>
357053 ······​<DisorderFlagList·​count="1">356964 ······​<DisorderFlagList·​count="1">
357054 ········​<DisorderFlag·​id="475">356965 ········​<DisorderFlag·​id="475">
357055 ··········​<Value>1</​Value>356966 ··········​<Value>1</​Value>
357057 ········​</​DisorderFlag>356968 ········​</​DisorderFlag>
357058 ······​</​DisorderFlagList>356969 ······​</​DisorderFlagList>
357059 ······​<SynonymList·​count="4">356970 ······​<SynonymList·​count="4">
356971 ········​<Synonym·​lang="nl">Erfelijke·​AML</​Synonym>
357060 ········​<Synonym·​lang="nl">Familiale·​AML</​Synonym>356972 ········​<Synonym·​lang="nl">Familiale·​AML</​Synonym>
357061 ········​<Synonym·​lang="nl">Overgeërfde​·​AML</​Synonym>
357062 ········​<Synonym·​lang="nl">Zuivere·​familiale·​AML</​Synonym>356973 ········​<Synonym·​lang="nl">Zuivere·​familiale·​AML</​Synonym>
357063 ········​<Synonym·​lang="nl">Zuivere·​familiale·​acute·​myeloïde·​leukemie</​Synonym>356974 ········​<Synonym·​lang="nl">Zuivere·​familiale·​acute·​myeloïde·​leukemie</​Synonym>
357064 ······​</​SynonymList>356975 ······​</​SynonymList>
357112 ····​<Disorder·​id="21658">357023 ····​<Disorder·​id="21658">
357113 ······​<OrphaCode>319462</​OrphaCode>357024 ······​<OrphaCode>319462</​OrphaCode>
357114 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319462</​ExpertLink>357025 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319462</​ExpertLink>
357115 ······​<Name·​lang="nl">Overgeërfd·​kankerpredispositiesy​ndroom·​door·​biallelische·​BRCA2-​mutaties</​Name>357026 ······​<Name·​lang="nl">Hereditair·​kankerpredispositiesy​ndroom·​door·​biallelische·​BRCA2-​mutaties</​Name>
357116 ······​<DisorderFlagList·​count="1">357027 ······​<DisorderFlagList·​count="1">
357117 ········​<DisorderFlag·​id="475">357028 ········​<DisorderFlag·​id="475">
357118 ··········​<Value>1</​Value>357029 ··········​<Value>1</​Value>
357654 ····​<Disorder·​id="21618">357565 ····​<Disorder·​id="21618">
357655 ······​<OrphaCode>319160</​OrphaCode>357566 ······​<OrphaCode>319160</​OrphaCode>
357656 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319160</​ExpertLink>357567 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=319160</​ExpertLink>
357657 ······​<Name·​lang="nl">Congenitale​·​myopathie·​met·​interne·​nucleï·​en·​atypische·​kernen</​Name>357568 ······​<Name·​lang="nl">Congenitale​·​myopathie·​met·​interne·​nuclei·​en·​atypische·​kernen</​Name>
357658 ······​<DisorderFlagList·​count="1">357569 ······​<DisorderFlagList·​count="1">
357659 ········​<DisorderFlag·​id="475">357570 ········​<DisorderFlag·​id="475">
357660 ··········​<Value>1</​Value>357571 ··········​<Value>1</​Value>
359244 ······​<DisorderDisorderAsso​ciationList·​count="0">359155 ······​<DisorderDisorderAsso​ciationList·​count="0">
359245 ······​</​DisorderDisorderAssoc​iationList>359156 ······​</​DisorderDisorderAssoc​iationList>
359246 ······​<SummaryInformationLi​st·​count="1">359157 ······​<SummaryInformationLi​st·​count="1">
359247 ········​<SummaryInformation·​id="104901"·​lang="nl">359158 ········​<SummaryInformation·​id="-​1"·​lang="nl">
359248 ··········​<TextSectionList·​count="1">359159 ··········​<TextSectionList·​count="0">
359249 ············<TextSection·id="129257"·lang="nl">
359250 ··············<TextSectionType·id="16907">
359251 ················<Name·lang="nl">Definitie·ziekte</​Name>
359252 ··············</​TextSectionType>
359253 ··············<Contents>Primaire·systemische·amyloïdose·(PSA)​·is·een·vorm·van·AL-​amyloïdose·(zie·deze·term)​·die·wordt·veroorzaakt·door·de·aggregatie·en·afzetting·van·onoplosbare·amyloïdfibrillen·afkomstig·van·verkeerd·gevouwen·monoklonale·lichte·ketens·van·immunoglobuline·die·meestal·geproduceerd·worden·door·plasmaceltumor·(zie·deze·term)​,​·en·die·wordt·gekarakteriseerd·door·de·betrokkenheid·van·meerdere·organen.​</​Contents>
359254 ············</​TextSection>
359255 ··········​</​TextSectionList>359160 ··········​</​TextSectionList>
359161 ··········​<TextAuto>
359162 ············​<Info·​lang="nl">Deze·​ziekte·​is·​beschreven·​op··​AL-​amyloïdose</​Info>
359163 ··········​</​TextAuto>
359256 ········​</​SummaryInformation>359164 ········​</​SummaryInformation>
359257 ······​</​SummaryInformationLis​t>359165 ······​</​SummaryInformationLis​t>
359258 ····​</​Disorder>359166 ····​</​Disorder>
359360 ········​</​DisorderDisorderAssoc​iation>359268 ········​</​DisorderDisorderAssoc​iation>
359361 ······​</​DisorderDisorderAssoc​iationList>359269 ······​</​DisorderDisorderAssoc​iationList>
359362 ······​<SummaryInformationLi​st·​count="1">359270 ······​<SummaryInformationLi​st·​count="1">
359363 ········​<SummaryInformation·​id="104902"·​lang="nl">359271 ········​<SummaryInformation·​id="-​1"·​lang="nl">
359364 ··········​<TextSectionList·​count="1">359272 ··········​<TextSectionList·​count="0">
359365 ············<TextSection·id="129258"·lang="nl">
359366 ··············<TextSectionType·id="16907">
359367 ················<Name·lang="nl">Definitie·ziekte</​Name>
359368 ··············</​TextSectionType>
359369 ··············<Contents>Primaire·gelokaliseerde·amyloïdose·is·een·vorm·van·AL-​amyloïdose·(zie·deze·term)​·die·wordt·veroorzaakt·door·de·aggregatie·van·onoplosbare·amyloïdfibrillen·afkomstig·van·verkeerd·gevouwen·monoklonale·lichte·ketens·van·immunoglobuline·die·meestal·geproduceerd·worden·door·plasmaceltumor·(zie·deze·term)​,​·en·die·wordt·gekarakteriseerd·door·plaatselijke·afzetting·van·amyloïd·met·klinische·symptomen·die·beperkt·blijven·tot·het·getroffen·orgaan,​·in·de·meeste·gevallen·het·urinewegstelsel·(blaas)​,​·de·ogen,​·de·luchtwegen·(larynx,​·longen)​,​·en·de·huid.​</​Contents>
359370 ············</​TextSection>
359371 ··········​</​TextSectionList>359273 ··········​</​TextSectionList>
359274 ··········​<TextAuto>
359275 ············​<Info·​lang="nl">Deze·​ziekte·​is·​beschreven·​op··​AL-​amyloïdose</​Info>
359276 ··········​</​TextAuto>
359372 ········​</​SummaryInformation>359277 ········​</​SummaryInformation>
359373 ······​</​SummaryInformationLis​t>359278 ······​</​SummaryInformationLis​t>
359374 ····​</​Disorder>359279 ····​</​Disorder>
360785 ····​<Disorder·​id="21523">360690 ····​<Disorder·​id="21523">
360786 ······​<OrphaCode>314749</​OrphaCode>360691 ······​<OrphaCode>314749</​OrphaCode>
360787 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=314749</​ExpertLink>360692 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=314749</​ExpertLink>
360788 ······​<Name·​lang="nl">Zeldzame·​ziekte·​met·Cushingsyndroom·​als·​hoofdkenmerk</​Name>360693 ······​<Name·​lang="nl">Zeldzame·​ziekte·​met·syndroom·van·Cushing·​als·​hoofdkenmerk</​Name>
360789 ······​<DisorderFlagList·​count="1">360694 ······​<DisorderFlagList·​count="1">
360790 ········​<DisorderFlag·​id="475">360695 ········​<DisorderFlag·​id="475">
360791 ··········​<Value>1</​Value>360696 ··········​<Value>1</​Value>
361425 ····​<Disorder·​id="22488">361330 ····​<Disorder·​id="22488">
361426 ······​<OrphaCode>370131</​OrphaCode>361331 ······​<OrphaCode>370131</​OrphaCode>
361427 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=370131</​ExpertLink>361332 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=370131</​ExpertLink>
361428 ······​<Name·​lang="nl">White·bloedplaatjessyndroom​</​Name>361333 ······​<Name·​lang="nl">White-​bloedplaatjessyndroom​</​Name>
361429 ······​<DisorderFlagList·​count="1">361334 ······​<DisorderFlagList·​count="1">
361430 ········​<DisorderFlag·​id="475">361335 ········​<DisorderFlag·​id="475">
361431 ··········​<Value>1</​Value>361336 ··········​<Value>1</​Value>
361902 ··········​<Label></​Label>361807 ··········​<Label></​Label>
361903 ········​</​DisorderFlag>361808 ········​</​DisorderFlag>
361904 ······​</​DisorderFlagList>361809 ······​</​DisorderFlagList>
361905 ······​<SynonymList·​count="0">361810 ······​<SynonymList·​count="1">
361811 ········​<Synonym·​lang="nl">Syndroom·​bij·​foetus·​door·​carbamazepine</​Synonym>
361906 ······​</​SynonymList>361812 ······​</​SynonymList>
361907 ······​<DisorderType·​id="21401">361813 ······​<DisorderType·​id="21401">
361908 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>361814 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
364241 ··········​<Label></​Label>364147 ··········​<Label></​Label>
364242 ········​</​DisorderFlag>364148 ········​</​DisorderFlag>
364243 ······​</​DisorderFlagList>364149 ······​</​DisorderFlagList>
364244 ······​<SynonymList·​count="1">364150 ······​<SynonymList·​count="2">
364151 ········​<Synonym·​lang="nl">Congenitale​·​erytrodermie·​-​·​hypotrichose·​-​·​recidiverende·​infecties·​-​·​meerdere·​voedselallergieën-​syndroom</​Synonym>
364245 ········​<Synonym·​lang="nl">SAM-​syndroom</​Synonym>364152 ········​<Synonym·​lang="nl">SAM-​syndroom</​Synonym>
364246 ······​</​SynonymList>364153 ······​</​SynonymList>
364247 ······​<DisorderType·​id="21394">364154 ······​<DisorderType·​id="21394">
364294 ····​<Disorder·​id="22461">364201 ····​<Disorder·​id="22461">
364295 ······​<OrphaCode>370002</​OrphaCode>364202 ······​<OrphaCode>370002</​OrphaCode>
364296 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=370002</​ExpertLink>364203 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=370002</​ExpertLink>
364297 ······​<Name·​lang="nl">Focale·​palmoplantaire·​keratodermie·​met·​keratosen·aan·​gewrichten</​Name>364204 ······​<Name·​lang="nl">Focale·​palmoplantaire·​keratodermie·​met·​keratosen·van·​gewrichten</​Name>
364298 ······​<DisorderFlagList·​count="1">364205 ······​<DisorderFlagList·​count="1">
364299 ········​<DisorderFlag·​id="475">364206 ········​<DisorderFlag·​id="475">
364300 ··········​<Value>1</​Value>364207 ··········​<Value>1</​Value>
367774 ····​<Disorder·​id="22382">367681 ····​<Disorder·​id="22382">
367775 ······​<OrphaCode>364577</​OrphaCode>367682 ······​<OrphaCode>364577</​OrphaCode>
367776 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=364577</​ExpertLink>367683 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=364577</​ExpertLink>
367777 ······​<Name·​lang="nl">Intellectue​le·​achterstand·​-​·​brachydactylie·​-​·syndroom·van·Pierre·Robin</​Name>367684 ······​<Name·​lang="nl">Intellectue​le·​achterstand·​-​·​brachydactylie·​-​·Pierre·Robin·sequentie-​syndroom</​Name>
367778 ······​<DisorderFlagList·​count="1">367685 ······​<DisorderFlagList·​count="1">
367779 ········​<DisorderFlag·​id="475">367686 ········​<DisorderFlag·​id="475">
367780 ··········​<Value>1</​Value>367687 ··········​<Value>1</​Value>
368207 ····​<Disorder·​id="22298">368114 ····​<Disorder·​id="22298">
368208 ······​<OrphaCode>363417</​OrphaCode>368115 ······​<OrphaCode>363417</​OrphaCode>
368209 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=363417</​ExpertLink>368116 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=363417</​ExpertLink>
368210 ······​<Name·​lang="nl">Temtamy·preaxiale·​brachydactylie-​syndroom</​Name>368117 ······​<Name·​lang="nl">Preaxiale·​brachydactylie·van·Temtamy-​syndroom</​Name>
368211 ······​<DisorderFlagList·​count="1">368118 ······​<DisorderFlagList·​count="1">
368212 ········​<DisorderFlag·​id="475">368119 ········​<DisorderFlag·​id="475">
368213 ··········​<Value>1</​Value>368120 ··········​<Value>1</​Value>
368297 ······​</​DisorderFlagList>368204 ······​</​DisorderFlagList>
368298 ······​<SynonymList·​count="2">368205 ······​<SynonymList·​count="2">
368299 ········​<Synonym·​lang="nl">LCCS5</​Synonym>368206 ········​<Synonym·​lang="nl">LCCS5</​Synonym>
368300 ········​<Synonym·​lang="nl">Letale·​congenitale·​contractuur·syndroom·​type·​5</​Synonym>368207 ········​<Synonym·​lang="nl">Letale·​congenitale·​contracturen-​syndroom·​type·​5</​Synonym>
368301 ······​</​SynonymList>368208 ······​</​SynonymList>
368302 ······​<DisorderType·​id="21394">368209 ······​<DisorderType·​id="21394">
368303 ········​<Name·​lang="nl">Ziekte</​Name>368210 ········​<Name·​lang="nl">Ziekte</​Name>
368408 ····​<Disorder·​id="22302">368315 ····​<Disorder·​id="22302">
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368411 ······​<Name·​lang="nl">Autosomaal·​recessieve·​cerebellaire·​ataxie·​-​·​piramidale·tekenen·​-​·​nystagmus·​-​·​oculomotorische·​apraxie-​syndroom</​Name>368318 ······​<Name·​lang="nl">Autosomaal·​recessieve·​cerebellaire·​ataxie·​-​·​piramidale·verschijnselen·​-​·​nystagmus·​-​·​oculomotorische·​apraxie-​syndroom</​Name>
368412 ······​<DisorderFlagList·​count="1">368319 ······​<DisorderFlagList·​count="1">
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369885 ··············​<TextSectionType·​id="16907">369792 ··············​<TextSectionType·​id="16907">
369886 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>369793 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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369888 ··············​<Contents>Intellectue​le·achterstand·-​·voedingsproblemen·-​·​ontwikkelingsachterst​and·-​·microcefalie-​syndroom·is·een·zeldzame,​·genetische,​·syndromale·intellectuele·invaliditeit·die·gekarakteriseerd·wordt·door·​marginale·​tot·​ernstige·​intellectuele·​achterstand,​·algehele·ontwikkelingsachterst​and,​·voedingsproblemen,​·microcefalie,​·kleine·gestalte,​·​en·​milde·​faciale·​dysmorfie,​·met·onder·meer·dikke·wenkbrauwen,​·lange·wimpers,​·prominente·snijtanden·en/​o·dunne·bovenlip.​·Andere·mogelijk·​geassocieerde·kenmerken·​zijn·​onder·​meer·hypermetropie·met·of·zonder·esotropie,​·​gedragsanomalieën·(e.​g.​·​autistisch·gedrag,​·slaapstoornissen)​,​·urogenitale·afwijkingen·​(e.​g.​·cryptorchidie,​·liesbreuk)​,​·doorlopende·​handlijn·op·de·handpalm,​·clinodactylie·van·de·vijfde·vinger·en·hartdefecten·(e.​g.​·ASD,​·PDA)​.​</​Contents>369795 ··············​<Contents>Een·zeldzame,​·genetische·neurologische·​ontwikkelingsstoornis​,​·gekarakteriseerd·door·algehele·ontwikkelingsachterst​and,​·​marginale·​tot·​ernstige·​intellectuele·​achterstand,​·voedingsproblemen,​·gedragsanomalieën,​·visuele·anomalieën,​·​en·​milde·​faciale·​dysmorfie.​·Overige·​kenmerken·​die·kunnen·​geassocieerd·zijn,​·​zijn·​onder·​meer·​microcefalie,​·kleine·gestalte,​·urogenitale·anomalieën,​·​afwijkingen·van·het·verhemelte·​(e.​g.​·gespleten·verhemelte)​,​·kleine·​hartdefecten,​·recidiverende·​infecties,​·of·gehoorverlies.​</​Contents>
369889 ············​</​TextSection>369796 ············​</​TextSection>
369890 ··········​</​TextSectionList>369797 ··········​</​TextSectionList>
369891 ········​</​SummaryInformation>369798 ········​</​SummaryInformation>
369949 ······​</​ExternalReferenceList​>369856 ······​</​ExternalReferenceList​>
369950 ······​<DisorderDisorderAsso​ciationList·​count="0">369857 ······​<DisorderDisorderAsso​ciationList·​count="0">
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369957 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
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369961 ····​</​Disorder>369861 ····​</​Disorder>
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370572 ······​</​ExternalReferenceList​>370472 ······​</​ExternalReferenceList​>
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370574 ······​</​DisorderDisorderAssoc​iationList>370474 ······​</​DisorderDisorderAssoc​iationList>
370575 ······​<SummaryInformationLi​st·​count="0">370475 ······​<SummaryInformationLi​st·​count="1">
370476 ········​<SummaryInformation·​id="128992"·​lang="nl">
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370482 ··············​<Contents>Een·​groep·​van·​zeldzame·​tumoren·​van·​testis,​·​bestaande·​uit·​neoplasmata·​van·​zuiver·​'sex·​cord'-​type·​of·​zuiver·​stromaal·​type,​·​of·​neoplasmata·​met·​beide·​componenten·​in·​verschillende·​proporties·​en·​mate·​van·​differentiatie.​·​De·​tumoren·​presenteren·​zich·​meestal·​als·​een·​pijnloze·​massa·​van·​teelbal,​·​hoewel·​sommigen·​kunnen·​geassocieerd·​zijn·​met·​endocriene·​manifestaties·​zoals·​vroegtijdige·​puberteit,​·​gynaecomastie·​of·​erectiestoornis.​·​Maligne·​gedrag·​wordt·​bij·​slechts·​een·​klein·​percentage·​van·​deze·​tumoren·​waargenomen.​</​Contents>
370483 ············​</​TextSection>
370484 ··········​</​TextSectionList>
370485 ········​</​SummaryInformation>
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370577 ····​</​Disorder>370487 ····​</​Disorder>
370578 ····​<Disorder·​id="22310">370488 ····​<Disorder·​id="22310">
372481 ····​<Disorder·​id="22091">372391 ····​<Disorder·​id="22091">
372482 ······​<OrphaCode>352649</​OrphaCode>372392 ······​<OrphaCode>352649</​OrphaCode>
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372484 ······​<Name·​lang="nl">Defect·​van·het·​vesiculair·​transport·​van·​dopamine·​en·​serotonine·​in·de·​hersenen</​Name>372394 ······​<Name·​lang="nl">Defect·​van·​vesiculair·​transport·​van·​dopamine·​en·​serotonine·​in·​hersenen</​Name>
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372696 ············​<Name·​lang="nl">Mannelijke·onvruchtbaarheid·​met·​teratozoöspermie·​door·​een·​enkele·​genmutatie</​Name>372606 ············​<Name·​lang="nl">Mannelijke·infertiliteit·​met·​teratozoöspermie·​door·​een·​enkele·​genmutatie</​Name>
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373879 ····​<Disorder·​id="22126">373789 ····​<Disorder·​id="22126">
373880 ······​<OrphaCode>353253</​OrphaCode>373790 ······​<OrphaCode>353253</​OrphaCode>
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373882 ······​<Name·​lang="nl">Brandendemo​ndsyndroom</​Name>373792 ······​<Name·​lang="nl">Syndroom·van·mondbranden</​Name>
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373889 ······​<SynonymList·​count="6">373799 ······​<SynonymList·​count="6">
373890 ········​<Synonym·​lang="nl">BMS</​Synonym>373800 ········​<Synonym·​lang="nl">BMS</​Synonym>
373891 ········​<Synonym·​lang="nl">Mondbranden​</​Synonym>373801 ········​<Synonym·​lang="nl">Brandende·mond-​syndroom</​Synonym>
373892 ········​<Synonym·​lang="nl">Orale·​dysesthesie</​Synonym>373802 ········​<Synonym·​lang="nl">Orale·​dysesthesie</​Synonym>
373893 ········​<Synonym·​lang="nl">Orodynie</​Synonym>373803 ········​<Synonym·​lang="nl">Orodynie</​Synonym>
373894 ········​<Synonym·​lang="nl">Stomatodyni​e</​Synonym>373804 ········​<Synonym·​lang="nl">Stomatodyni​e</​Synonym>
373895 ········​<Synonym·​lang="nl">Stomatopyro​sis</​Synonym>373805 ········​<Synonym·​lang="nl">Stomatopyro​se</​Synonym>
373896 ······​</​SynonymList>373806 ······​</​SynonymList>
373897 ······​<DisorderType·​id="21394">373807 ······​<DisorderType·​id="21394">
373898 ········​<Name·​lang="nl">Ziekte</​Name>373808 ········​<Name·​lang="nl">Ziekte</​Name>
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373991 ············​<TextSection·​id="167979"·​lang="nl">
373992 ··············​<TextSectionType·​id="16907">
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373995 ··············​<Contents>Een·​zeldzame·​primaire·​cutane·​amyloïdose,​·​gekarakteriseerd·​door·​familiaal·​voorkomen·​van·​lichen·​amyloidosus·​en/​of·​maculaire·​amyloïdose·​als·​gevolg·​van·​fibrillaire·​degeneratie·​en·​apoptose·​van·​basale·​keratinocyten,​·​gevolgd·​door·​conversie·​van·​filamenteuze·​massa's·​tot·​amyloïd·​materiaal·​in·​het·​stratum·​papillare.​·​Patiënten·​vertonen·​doorgaans·​een·​pruritische·​eruptie·​van·​gegroepeerde·​hyperkeratotische·​papels,​·​die·​kunnen·​samenvloeien·​tot·​hyperkeratotische·​plaques,​·​met·​een·​voorkeur·​voor·​de·​onderste·​ledematen·​(lichen·​amyloidosus)​,​·​of·​gehyperpigmenteerde·​maculae,​·​soms·​met·​een·​reticulair·​patroon,​·​die·​doorgaans·​ontstaan·​op·​de·​rug,​·​thorax·​of·​interscapulaire·​gebieden·​(maculaire·​amyloïdose)​.​</​Contents>
373996 ············​</​TextSection>
373997 ··········​</​TextSectionList>
373998 ········​</​SummaryInformation>
374079 ······​</​SummaryInformationLis​t>373999 ······​</​SummaryInformationLis​t>
374080 ····​</​Disorder>374000 ····​</​Disorder>
374081 ····​<Disorder·​id="22119">374001 ····​<Disorder·​id="22119">
374263 ······​<OrphaCode>352740</​OrphaCode>374183 ······​<OrphaCode>352740</​OrphaCode>
374264 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=352740</​ExpertLink>374184 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=352740</​ExpertLink>
374265 ······​<Name·​lang="nl">Oculair·​albinisme·​met·​congenitale·​sensorineurale·​doofheid</​Name>374185 ······​<Name·​lang="nl">Oculair·​albinisme·​met·​congenitale·​sensorineurale·​doofheid</​Name>
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374188 ··········​<Value>8192</​Value>
374189 ··········​<Label>Inactive</​Label>
374190 ········​</​DisorderFlag>
374191 ········​<DisorderFlag·​id="459">
374192 ··········​<Value>256</​Value>
374193 ··········​<Label>Deprecated·​entity</​Label>
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374269 ··········​<Label></​Label>374197 ··········​<Label></​Label>
374281 ······​</​DisorderGroup>374209 ······​</​DisorderGroup>
374282 ······​<ExternalReferenceLis​t·​count="0">374210 ······​<ExternalReferenceLis​t·​count="0">
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374284 ······​<DisorderDisorderAsso​ciationList·​count="0">374212 ······​<DisorderDisorderAsso​ciationList·​count="1">
374213 ········​<DisorderDisorderAsso​ciation>
374214 ··········​<TargetDisorder·​id="220">
374215 ············​<OrphaCode>895</​OrphaCode>
374216 ············​<Name·​lang="nl">Syndroom·​van·​Waardenburg·​type·​2</​Name>
374217 ··········​</​TargetDisorder>
374218 ··········​<RootDisorder·​id="22112"·​cycle="true"/​>
374219 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
374220 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>
374221 ··········​</​DisorderDisorderAssoc​iationType>
374222 ········​</​DisorderDisorderAssoc​iation>
374285 ······​</​DisorderDisorderAssoc​iationList>374223 ······​</​DisorderDisorderAssoc​iationList>
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374229 ············​<Info·​lang="nl">Deze·​entiteit·​werd·​uitgesloten·​van·​de·​nomenclatuur·​van·​zeldzame·​ziekten·​van·​Orphanet·​en·​verplaatst·​naar··​Syndroom·​van·​Waardenburg·​type·​2</​Info>
374230 ··········​</​TextAuto>
374231 ········​</​SummaryInformation>
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374289 ····​<Disorder·​id="22142">374234 ····​<Disorder·​id="22142">
374290 ······​<OrphaCode>353356</​OrphaCode>374235 ······​<OrphaCode>353356</​OrphaCode>
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374292 ······​<Name·​lang="nl">Vasoprolife​ratieve·​tumor·​van·de·​retina</​Name>374237 ······​<Name·​lang="nl">Vasoprolife​ratieve·​tumor·​van·​retina</​Name>
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374299 ······​<SynonymList·​count="4">374244 ······​<SynonymList·​count="4">
374300 ········​<Synonym·​lang="nl">Retinale·​vasoproliferatieve·​tumor</​Synonym>374245 ········​<Synonym·​lang="nl">Retinale·​vasoproliferatieve·​tumor</​Synonym>
374301 ········​<Synonym·​lang="nl">VPTR</​Synonym>374246 ········​<Synonym·​lang="nl">VPTR</​Synonym>
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374304 ······​</​SynonymList>374249 ······​</​SynonymList>
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374306 ········​<Name·​lang="nl">Ziekte</​Name>374251 ········​<Name·​lang="nl">Ziekte</​Name>
376904 ····​<Disorder·​id="20900">376849 ····​<Disorder·​id="20900">
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376907 ······​<Name·​lang="nl">Snel·​aanvangende·​obesitas·​in·​de·​kindertijd·​-​·hypothalamische·disfunctie·​-​·​hypoventilatie·​-​·​autonome·​disregulatie-​syndroom</​Name>376852 ······​<Name·​lang="nl">Snel·​aanvangende·​obesitas·​in·​de·​kindertijd·​-​·disfunctie·van·hypothalamus·​-​·​hypoventilatie·​-​·​autonome·​disregulatie-​syndroom</​Name>
376908 ······​<DisorderFlagList·​count="1">376853 ······​<DisorderFlagList·​count="1">
376909 ········​<DisorderFlag·​id="475">376854 ········​<DisorderFlag·​id="475">
376910 ··········​<Value>1</​Value>376855 ··········​<Value>1</​Value>
376914 ······​<SynonymList·​count="3">376859 ······​<SynonymList·​count="3">
376915 ········​<Synonym·​lang="nl">ROHHAD</​Synonym>376860 ········​<Synonym·​lang="nl">ROHHAD</​Synonym>
376916 ········​<Synonym·​lang="nl">ROHHADNET</​Synonym>376861 ········​<Synonym·​lang="nl">ROHHADNET</​Synonym>
376917 ········​<Synonym·​lang="nl">Snel·​aanvangende·​obesitas·​in·​de·​kindertijd·​-​·hypothalamische·disfunctie·​-​·​hypoventilatie·​-​·​autonome·​disregulatie·​-​·​neurale·​tumoren-​syndroom</​Synonym>376862 ········​<Synonym·​lang="nl">Snel·​aanvangende·​obesitas·​in·​de·​kindertijd·​-​·disfunctie·van·hypothalamus·​-​·​hypoventilatie·​-​·​autonome·​disregulatie·​-​·​neurale·​tumoren-​syndroom</​Synonym>
376918 ······​</​SynonymList>376863 ······​</​SynonymList>
376919 ······​<DisorderType·​id="21394">376864 ······​<DisorderType·​id="21394">
376920 ········​<Name·​lang="nl">Ziekte</​Name>376865 ········​<Name·​lang="nl">Ziekte</​Name>
377230 ····​<Disorder·​id="20898">377175 ····​<Disorder·​id="20898">
377231 ······​<OrphaCode>293978</​OrphaCode>377176 ······​<OrphaCode>293978</​OrphaCode>
377232 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=293978</​ExpertLink>377177 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=293978</​ExpertLink>
377233 ······​<Name·​lang="nl">Deficiëntie​·​van·​de·voorste·hypofysefunctie·​-​·​variabele·​immuundeficiëntie-​syndroom</​Name>377178 ······​<Name·​lang="nl">Disfunctie·​van·adenohypofyse·​-​·​variabele·​immuundeficiëntie-​syndroom</​Name>
377234 ······​<DisorderFlagList·​count="1">377179 ······​<DisorderFlagList·​count="1">
377235 ········​<DisorderFlag·​id="475">377180 ········​<DisorderFlag·​id="475">
377236 ··········​<Value>1</​Value>377181 ··········​<Value>1</​Value>
377338 ····​<Disorder·​id="20894">377283 ····​<Disorder·​id="20894">
377339 ······​<OrphaCode>293955</​OrphaCode>377284 ······​<OrphaCode>293955</​OrphaCode>
377340 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=293955</​ExpertLink>377285 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=293955</​ExpertLink>
377341 ······​<Name·​lang="nl">Encefalopat​hie·​in·​de·​kindertijd·​door·​thiaminepyrofosfokina​sedeficiëntie</​Name>377286 ······​<Name·​lang="nl">Encefalopat​hie·​in·​de·​kindertijd·​door·deficiëntie·van·​thiaminepyrofosfokina​se</​Name>
377342 ······​<DisorderFlagList·​count="1">377287 ······​<DisorderFlagList·​count="1">
377343 ········​<DisorderFlag·​id="475">377288 ········​<DisorderFlag·​id="475">
377344 ··········​<Value>1</​Value>377289 ··········​<Value>1</​Value>
382120 ····​<Disorder·​id="20932">382065 ····​<Disorder·​id="20932">
382121 ······​<OrphaCode>294965</​OrphaCode>382066 ······​<OrphaCode>294965</​OrphaCode>
382122 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=294965</​ExpertLink>382067 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=294965</​ExpertLink>
382123 ······​<Name·​lang="nl">Letaal·​congenitaal·​contractuursyndroom</​Name>382068 ······​<Name·​lang="nl">Letale·​congenitale·​contracturen-​syndroom</​Name>
382124 ······​<DisorderFlagList·​count="1">382069 ······​<DisorderFlagList·​count="1">
382125 ········​<DisorderFlag·​id="475">382070 ········​<DisorderFlag·​id="475">
382126 ··········​<Value>1</​Value>382071 ··········​<Value>1</​Value>
383726 ········​<Synonym·​lang="nl">MPAN</​Synonym>383671 ········​<Synonym·​lang="nl">MPAN</​Synonym>
383727 ········​<Synonym·​lang="nl">NBIA·​door·​C19orf12-​mutatie</​Synonym>383672 ········​<Synonym·​lang="nl">NBIA·​door·​C19orf12-​mutatie</​Synonym>
383728 ········​<Synonym·​lang="nl">NBIA4</​Synonym>383673 ········​<Synonym·​lang="nl">NBIA4</​Synonym>
383729 ········​<Synonym·​lang="nl">Neurodegene​ratie·​met·​ijzerstapeling·​in·de·​hersenen·​door·​C19orf12-​mutatie</​Synonym>383674 ········​<Synonym·​lang="nl">Neurodegene​ratie·​met·​ijzerstapeling·​in·​hersenen·​door·​C19orf12-​mutatie</​Synonym>
383730 ········​<Synonym·​lang="nl">Neurodegene​ratie·​met·​ijzerstapeling·​in·de·​hersenen·​type·​4</​Synonym>383675 ········​<Synonym·​lang="nl">Neurodegene​ratie·​met·​ijzerstapeling·​in·​hersenen·​type·​4</​Synonym>
383731 ······​</​SynonymList>383676 ······​</​SynonymList>
383732 ······​<DisorderType·​id="21394">383677 ······​<DisorderType·​id="21394">
383733 ········​<Name·​lang="nl">Ziekte</​Name>383678 ········​<Name·​lang="nl">Ziekte</​Name>
384797 ········​<DisorderDisorderAsso​ciation>384742 ········​<DisorderDisorderAsso​ciation>
384798 ··········​<TargetDisorder·​id="11766">384743 ··········​<TargetDisorder·​id="11766">
384799 ············​<OrphaCode>86872</​OrphaCode>384744 ············​<OrphaCode>86872</​OrphaCode>
384800 ············​<Name·​lang="nl">T-​cel-​leukemie·met·grote·​granulaire·​lymfocyten</​Name>384745 ············​<Name·​lang="nl">Grootcellig​e·​granulaire·​lymfocytaire·T-​celleukemie</​Name>
384801 ··········​</​TargetDisorder>384746 ··········​</​TargetDisorder>
384802 ··········​<RootDisorder·​id="5538"·​cycle="true"/​>384747 ··········​<RootDisorder·​id="5538"·​cycle="true"/​>
384803 ··········​<DisorderDisorderAsso​ciationType·​id="21471">384748 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
385075 ····​<Disorder·​id="20839">385020 ····​<Disorder·​id="20839">
385076 ······​<OrphaCode>293168</​OrphaCode>385021 ······​<OrphaCode>293168</​OrphaCode>
385077 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=293168</​ExpertLink>385022 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=293168</​ExpertLink>
385078 ······​<Name·​lang="nl">Toenemende·​erfelijke·​spastische·​paralyse·​met·aanvang·tijdens·de·vroege·kindertijd</​Name>385023 ······​<Name·​lang="nl">Opstijgende​·​erfelijke·​spastische·​paralyse·​met·infantiele·aanvang</​Name>
385079 ······​<DisorderFlagList·​count="1">385024 ······​<DisorderFlagList·​count="1">
385080 ········​<DisorderFlag·​id="475">385025 ········​<DisorderFlag·​id="475">
385081 ··········​<Value>1</​Value>385026 ··········​<Value>1</​Value>
385082 ··········​<Label></​Label>385027 ··········​<Label></​Label>
385083 ········​</​DisorderFlag>385028 ········​</​DisorderFlag>
385084 ······​</​DisorderFlagList>385029 ······​</​DisorderFlagList>
385085 ······​<SynonymList·​count="2">385030 ······​<SynonymList·​count="1">
385086 ········​<Synonym·​lang="nl">IAHSP</​Synonym>385031 ········​<Synonym·​lang="nl">IAHSP</​Synonym>
385087 ········​<Synonym·​lang="nl">Toenemende·​erfelijke·​spastische·​verlamming·​met·​aanvang·​tijdens·​de·​vroege·​kindertijd</​Synonym>
385088 ······​</​SynonymList>385032 ······​</​SynonymList>
385089 ······​<DisorderType·​id="21394">385033 ······​<DisorderType·​id="21394">
385090 ········​<Name·​lang="nl">Ziekte</​Name>385034 ········​<Name·​lang="nl">Ziekte</​Name>
387343 ····​<Disorder·​id="5517">387287 ····​<Disorder·​id="5517">
387344 ······​<OrphaCode>80</​OrphaCode>387288 ······​<OrphaCode>80</​OrphaCode>
387345 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=80</​ExpertLink>387289 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=80</​ExpertLink>
387346 ······​<Name·​lang="nl">NIET·​ZELDZAME·​ZIEKTE·​IN·​EUROPA:​·​Antifosfolipidesyndro​om</​Name>387290 ······​<Name·​lang="nl">NIET·​ZELDZAME·​ZIEKTE·​IN·​EUROPA:​·​Antifosfolipidensyndr​oom</​Name>
387347 ······​<DisorderFlagList·​count="3">387291 ······​<DisorderFlagList·​count="3">
387348 ········​<DisorderFlag·​id="495">387292 ········​<DisorderFlag·​id="495">
387349 ··········​<Value>8192</​Value>387293 ··········​<Value>8192</​Value>
387359 ········​</​DisorderFlag>387303 ········​</​DisorderFlag>
387360 ······​</​DisorderFlagList>387304 ······​</​DisorderFlagList>
387361 ······​<SynonymList·​count="3">387305 ······​<SynonymList·​count="3">
387362 ········​<Synonym·​lang="nl">Antifosfoli​pide·antilichaam-​syndroom</​Synonym>387306 ········​<Synonym·​lang="nl">Antifosfoli​pide-​antilichaamsyndroom</​Synonym>
387363 ········​<Synonym·​lang="nl">Familiale·​lupus·​anticoagulans</​Synonym>387307 ········​<Synonym·​lang="nl">Familiale·​lupus·​anticoagulans</​Synonym>
387364 ········​<Synonym·​lang="nl">Syndroom·​van·​Hughes</​Synonym>387308 ········​<Synonym·​lang="nl">Syndroom·​van·​Hughes</​Synonym>
387365 ······​</​SynonymList>387309 ······​</​SynonymList>
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388077 ······​<DisorderDisorderAsso​ciationList·​count="0">388021 ······​<DisorderDisorderAsso​ciationList·​count="0">
388078 ······​</​DisorderDisorderAssoc​iationList>388022 ······​</​DisorderDisorderAssoc​iationList>
388079 ······​<SummaryInformationLi​st·​count="1">388023 ······​<SummaryInformationLi​st·​count="0">
388080 ········<SummaryInformation·id="-​1"·lang="nl">
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388082 ··········</​TextSectionList>
388083 ··········<TextAuto>
388084 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
388085 ··········</​TextAuto>
388086 ········</​SummaryInformation>
388087 ······​</​SummaryInformationLis​t>388024 ······​</​SummaryInformationLis​t>
388088 ····​</​Disorder>388025 ····​</​Disorder>
388089 ····​<Disorder·​id="20629">388026 ····​<Disorder·​id="20629">
390698 ······​<DisorderDisorderAsso​ciationList·​count="0">390635 ······​<DisorderDisorderAsso​ciationList·​count="0">
390699 ······​</​DisorderDisorderAssoc​iationList>390636 ······​</​DisorderDisorderAssoc​iationList>
390700 ······​<SummaryInformationLi​st·​count="1">390637 ······​<SummaryInformationLi​st·​count="1">
390701 ········​<SummaryInformation·​id="-​1"·​lang="nl">390638 ········​<SummaryInformation·​id="129118"·​lang="nl">
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390641 ··············​<TextSectionType·​id="16907">
390642 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
390643 ··············​</​TextSectionType>
390644 ··············​<Contents>Een·​groep·​van·​zeldzame·​erfelijke·​niet-​syndromale·​ichtyosen,​·​gekarakteriseerd·​door·​mutaties·​in·​genen·​voor·​keratines.​·​Mutaties·​in·​&lt;​i&gt;​KRT1&lt;​/​i&gt;​·​en·​&lt;​i&gt;​KRT10&lt;​/​i&gt;​·​veroorzaken·​de·​ergste·​gevallen·​van·​epidermolytische·​ichthyosis·​(EI)​,​·​alsook·​congenitale·​reticulaire·​ichthyosiforme·​erytrodermie·​(CRIE)​.​·​EI·​manifesteert·​zich·​bij·​de·​geboorte·​met·​gegeneraliseerde·​blaarvorming,​·​die·​later·​transformeert·​tot·​hyperkeratose.​·​Ernstige·​palmoplantaire·​betrokkenheid·​wijst·​op·​de·​aanwezigheid·​van·​een·​mutatie·​in·​&lt;​i&gt;​KRT1&lt;​/​i&gt;​.​·​CRIE-​patiënten·​vertonen·​bij·​de·​geboorte·​erytrodermie·​en·​desquamatie,​·​vaak·​met·​een·​collodiummembraan,​·​en·​ontwikkelen·​geleidelijk·​confetti-​achtige·​heldere·​gebieden·​met·​normale·​huid.​·​Mutaties·​in·​&lt;​i&gt;​KRT2&lt;​/​i&gt;​·​zijn·​geassocieerd·​met·​superficiële·​epidermolytische·​ichthyosis·​(SEI)​,​·​die·​klinisch·​gelijkaardig·​is·​aan·​EI,​·​maar·​doorgaans·​milder·​en·​meer·​gelokaliseerd.​</​Contents>
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390703 ··········​</​TextSectionList>390646 ··········​</​TextSectionList>
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390705 ············​<Info·​lang="nl">Deze·​term·​is·​niet·​kenmerkend·​voor·​één·​ziekte·​maar·​voor·​een·​groep·​van·​ziekten.​·​Om·​meer·​te·​leren·​over·​de·​ziekten·​die·​overeenkomen·​met·​deze·​term,​·​kan·​u·​de·​classificatie·​raadplegen.​</​Info>
390706 ··········​</​TextAuto>
390707 ········​</​SummaryInformation>390647 ········​</​SummaryInformation>
390708 ······​</​SummaryInformationLis​t>390648 ······​</​SummaryInformationLis​t>
390709 ····​</​Disorder>390649 ····​</​Disorder>
391172 ····​<Disorder·​id="20530">391112 ····​<Disorder·​id="20530">
391173 ······​<OrphaCode>281139</​OrphaCode>391113 ······​<OrphaCode>281139</​OrphaCode>
391174 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=281139</​ExpertLink>391114 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=281139</​ExpertLink>
391175 ······​<Name·​lang="nl">Ringvormige​·​epidermolytische·​ichthyosis</​Name>391115 ······​<Name·​lang="nl">Annulaire·​epidermolytische·​ichthyosis</​Name>
391176 ······​<DisorderFlagList·​count="1">391116 ······​<DisorderFlagList·​count="1">
391177 ········​<DisorderFlag·​id="475">391117 ········​<DisorderFlag·​id="475">
391178 ··········​<Value>1</​Value>391118 ··········​<Value>1</​Value>
391181 ······​</​DisorderFlagList>391121 ······​</​DisorderFlagList>
391182 ······​<SynonymList·​count="2">391122 ······​<SynonymList·​count="2">
391183 ········​<Synonym·​lang="nl">AEI</​Synonym>391123 ········​<Synonym·​lang="nl">AEI</​Synonym>
391184 ········​<Synonym·​lang="nl">Annulaire·​epidermolytische·​ichthyosis</​Synonym>391124 ········​<Synonym·​lang="nl">Ringvormige​·​epidermolytische·​ichthyosis</​Synonym>
391185 ······​</​SynonymList>391125 ······​</​SynonymList>
391186 ······​<DisorderType·​id="21394">391126 ······​<DisorderType·​id="21394">
391187 ········​<Name·​lang="nl">Ziekte</​Name>391127 ········​<Name·​lang="nl">Ziekte</​Name>
394041 ····​<Disorder·​id="20603">393981 ····​<Disorder·​id="20603">
394042 ······​<OrphaCode>284388</​OrphaCode>393982 ······​<OrphaCode>284388</​OrphaCode>
394043 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=284388</​ExpertLink>393983 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=284388</​ExpertLink>
394044 ······​<Name·​lang="nl">Reversibele​·​cerebrale·​vasoconstrictiesyndro​om</​Name>393984 ······​<Name·​lang="nl">Reversibele​·​cerebrale·​vasoconstrictie-​syndroom</​Name>
394045 ······​<DisorderFlagList·​count="1">393985 ······​<DisorderFlagList·​count="1">
394046 ········​<DisorderFlag·​id="475">393986 ········​<DisorderFlag·​id="475">
394047 ··········​<Value>1</​Value>393987 ··········​<Value>1</​Value>
396363 ········​</​DisorderFlag>396303 ········​</​DisorderFlag>
396364 ······​</​DisorderFlagList>396304 ······​</​DisorderFlagList>
396365 ······​<SynonymList·​count="2">396305 ······​<SynonymList·​count="2">
396366 ········​<Synonym·​lang="nl">Familiale·​polypose·​van·​fundusklieren·​met·​maagkanker</​Synonym>396306 ········​<Synonym·​lang="nl">Familiale·​polyposis·​van·​fundusklieren·​met·​maagkanker</​Synonym>
396367 ········​<Synonym·​lang="nl">GAPPS</​Synonym>396307 ········​<Synonym·​lang="nl">GAPPS</​Synonym>
396368 ······​</​SynonymList>396308 ······​</​SynonymList>
396369 ······​<DisorderType·​id="21394">396309 ······​<DisorderType·​id="21394">
397599 ····​<Disorder·​id="21496">397539 ····​<Disorder·​id="21496">
397600 ······​<OrphaCode>314572</​OrphaCode>397540 ······​<OrphaCode>314572</​OrphaCode>
397601 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=314572</​ExpertLink>397541 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=314572</​ExpertLink>
397602 ······​<Name·​lang="nl">Autosomaal·​recessief·​leuko-​encefalopathie·​-​·​ischemische·​beroerte·​-​·​retinitis·​pigmentosa-​syndroom</​Name>397542 ······​<Name·​lang="nl">Autosomaal·​recessieve·​leuko-​encefalopathie·​-​·​ischemische·​beroerte·​-​·​retinitis·​pigmentosa-​syndroom</​Name>
397603 ······​<DisorderFlagList·​count="1">397543 ······​<DisorderFlagList·​count="1">
397604 ········​<DisorderFlag·​id="475">397544 ········​<DisorderFlag·​id="475">
397605 ··········​<Value>1</​Value>397545 ··········​<Value>1</​Value>
397705 ····​<Disorder·​id="21498">397645 ····​<Disorder·​id="21498">
397706 ······​<OrphaCode>314585</​OrphaCode>397646 ······​<OrphaCode>314585</​OrphaCode>
397707 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=314585</​ExpertLink>397647 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=314585</​ExpertLink>
397708 ······​<Name·​lang="nl">15q·overgroeisyndroom</​Name>397648 ······​<Name·​lang="nl">15q-​overgroeisyndroom</​Name>
397709 ······​<DisorderFlagList·​count="1">397649 ······​<DisorderFlagList·​count="1">
397710 ········​<DisorderFlag·​id="475">397650 ········​<DisorderFlag·​id="475">
397711 ··········​<Value>1</​Value>397651 ··········​<Value>1</​Value>
398510 ··········​<Label></​Label>398450 ··········​<Label></​Label>
398511 ········​</​DisorderFlag>398451 ········​</​DisorderFlag>
398512 ······​</​DisorderFlagList>398452 ······​</​DisorderFlagList>
398513 ······​<SynonymList·​count="1">398453 ······​<SynonymList·​count="2">
398514 ········​<Synonym·​lang="nl">ADCA-​DN-​syndroom</​Synonym>398454 ········​<Synonym·​lang="nl">ADCA-​DN-​syndroom</​Synonym>
398455 ········​<Synonym·​lang="nl">Autosomaal·​dominante·​cerebellaire·​ataxie·​-​·​gehoorverlies·​-​·​narcolepsie-​syndroom</​Synonym>
398515 ······​</​SynonymList>398456 ······​</​SynonymList>
398516 ······​<DisorderType·​id="21394">398457 ······​<DisorderType·​id="21394">
398517 ········​<Name·​lang="nl">Ziekte</​Name>398458 ········​<Name·​lang="nl">Ziekte</​Name>
398975 ····​<Disorder·​id="21475">398916 ····​<Disorder·​id="21475">
398976 ······​<OrphaCode>314051</​OrphaCode>398917 ······​<OrphaCode>314051</​OrphaCode>
398977 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=314051</​ExpertLink>398918 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=314051</​ExpertLink>
398978 ······​<Name·​lang="nl">Leuko-​encefalopathie·​-​·​thalamus-​·​en·​hersenstamanomalieën·​-​·​hoog·​lactaatgehalte-​syndroom</​Name>398919 ······​<Name·​lang="nl">Leuko-​encefalopathie·​-​·anomalieën·van·​thalamus·​en·​hersenstam·​-​·​hoog·​lactaatgehalte-​syndroom</​Name>
398979 ······​<DisorderFlagList·​count="1">398920 ······​<DisorderFlagList·​count="1">
398980 ········​<DisorderFlag·​id="475">398921 ········​<DisorderFlag·​id="475">
398981 ··········​<Value>1</​Value>398922 ··········​<Value>1</​Value>
400780 ····​<Disorder·​id="21310">400721 ····​<Disorder·​id="21310">
400781 ······​<OrphaCode>308410</​OrphaCode>400722 ······​<OrphaCode>308410</​OrphaCode>
400782 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=308410</​ExpertLink>400723 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=308410</​ExpertLink>
400783 ······​<Name·​lang="nl">Autisme-​epilepsiesyndroom·​door·​vertakte·​keten-​ketozuurdehydrogenase​kinasedeficiëntie</​Name>400724 ······​<Name·​lang="nl">Autisme·-​·epilepsie-​syndroom·​door·deficiëntie·van·​vertakte·​keten-​ketozuurdehydrogenase​kinase</​Name>
400784 ······​<DisorderFlagList·​count="1">400725 ······​<DisorderFlagList·​count="1">
400785 ········​<DisorderFlag·​id="475">400726 ········​<DisorderFlag·​id="475">
400786 ··········​<Value>1</​Value>400727 ··········​<Value>1</​Value>
402155 ····​<Disorder·​id="21342">402096 ····​<Disorder·​id="21342">
402156 ······​<OrphaCode>309111</​OrphaCode>402097 ······​<OrphaCode>309111</​OrphaCode>
402157 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=309111</​ExpertLink>402098 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=309111</​ExpertLink>
402158 ······​<Name·​lang="nl">Gecombineer​de·​pancreatische·​lipase-​colipasedeficiëntie</​Name>402099 ······​<Name·​lang="nl">Gecombineer​de·deficiëntie·van·​pancreatisch·​lipase-​colipase</​Name>
402159 ······​<DisorderFlagList·​count="2">402100 ······​<DisorderFlagList·​count="2">
402160 ········​<DisorderFlag·​id="460">402101 ········​<DisorderFlag·​id="460">
402161 ··········​<Value>512</​Value>402102 ··········​<Value>512</​Value>
402333 ····​<Disorder·​id="21341">402274 ····​<Disorder·​id="21341">
402334 ······​<OrphaCode>309108</​OrphaCode>402275 ······​<OrphaCode>309108</​OrphaCode>
402335 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=309108</​ExpertLink>402276 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=309108</​ExpertLink>
402336 ······​<Name·​lang="nl">Pancreatisc​he·colipasedeficiëntie</​Name>402277 ······​<Name·​lang="nl">Deficiëntie​·van·pancreatisch·colipase</​Name>
402337 ······​<DisorderFlagList·​count="2">402278 ······​<DisorderFlagList·​count="2">
402338 ········​<DisorderFlag·​id="460">402279 ········​<DisorderFlag·​id="460">
402339 ··········​<Value>512</​Value>402280 ··········​<Value>512</​Value>
402487 ····​<Disorder·​id="21336">402428 ····​<Disorder·​id="21336">
402488 ······​<OrphaCode>309015</​OrphaCode>402429 ······​<OrphaCode>309015</​OrphaCode>
402489 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=309015</​ExpertLink>402430 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=309015</​ExpertLink>
402490 ······​<Name·​lang="nl">Familiale·lipoproteïnelipasedef​iciëntie</​Name>402431 ······​<Name·​lang="nl">Familiale·deficiëntie·van·lipoproteïnelipase</​Name>
402491 ······​<DisorderFlagList·​count="1">402432 ······​<DisorderFlagList·​count="1">
402492 ········​<DisorderFlag·​id="475">402433 ········​<DisorderFlag·​id="475">
402493 ··········​<Value>1</​Value>402434 ··········​<Value>1</​Value>
405040 ········​</​DisorderFlag>404981 ········​</​DisorderFlag>
405041 ······​</​DisorderFlagList>404982 ······​</​DisorderFlagList>
405042 ······​<SynonymList·​count="1">404983 ······​<SynonymList·​count="1">
405043 ········​<Synonym·​lang="nl">Hyperalalin​emie</​Synonym>404984 ········​<Synonym·​lang="nl">Hyperalanin​emie</​Synonym>
405044 ······​</​SynonymList>404985 ······​</​SynonymList>
405045 ······​<DisorderType·​id="21394">404986 ······​<DisorderType·​id="21394">
405046 ········​<Name·​lang="nl">Ziekte</​Name>404987 ········​<Name·​lang="nl">Ziekte</​Name>
406031 ····​<Disorder·​id="21130">405972 ····​<Disorder·​id="21130">
406032 ······​<OrphaCode>300557</​OrphaCode>405973 ······​<OrphaCode>300557</​OrphaCode>
406033 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300557</​ExpertLink>405974 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300557</​ExpertLink>
406034 ······​<Name·​lang="nl">Carcinoom·​van·de·​ampul·​van·​Vater</​Name>405975 ······​<Name·​lang="nl">Carcinoom·​van·​ampul·​van·​Vater</​Name>
406035 ······​<DisorderFlagList·​count="1">405976 ······​<DisorderFlagList·​count="1">
406036 ········​<DisorderFlag·​id="475">405977 ········​<DisorderFlag·​id="475">
406037 ··········​<Value>1</​Value>405978 ··········​<Value>1</​Value>
406867 ····​<Disorder·​id="21145">406808 ····​<Disorder·​id="21145">
406868 ······​<OrphaCode>300849</​OrphaCode>406809 ······​<OrphaCode>300849</​OrphaCode>
406869 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300849</​ExpertLink>406810 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300849</​ExpertLink>
406870 ······​<Name·​lang="nl">Diffuus·​grootcellig·​B-​cellymfoom·​van·het·​centrale·​zenuwstelsel</​Name>406811 ······​<Name·​lang="nl">Diffuus·​grootcellig·​B-​cellymfoom·​van·​centraal·​zenuwstelsel</​Name>
406871 ······​<DisorderFlagList·​count="1">406812 ······​<DisorderFlagList·​count="1">
406872 ········​<DisorderFlag·​id="475">406813 ········​<DisorderFlag·​id="475">
406873 ··········​<Value>1</​Value>406814 ··········​<Value>1</​Value>
406875 ········​</​DisorderFlag>406816 ········​</​DisorderFlag>
406876 ······​</​DisorderFlagList>406817 ······​</​DisorderFlagList>
406877 ······​<SynonymList·​count="1">406818 ······​<SynonymList·​count="1">
406878 ········​<Synonym·​lang="nl">DLBCL·​van·het·​CZS</​Synonym>406819 ········​<Synonym·​lang="nl">DLBCL·​van·​CZS</​Synonym>
406879 ······​</​SynonymList>406820 ······​</​SynonymList>
406880 ······​<DisorderType·​id="21394">406821 ······​<DisorderType·​id="21394">
406881 ········​<Name·​lang="nl">Ziekte</​Name>406822 ········​<Name·​lang="nl">Ziekte</​Name>
406933 ······​</​ExternalReferenceList​>406874 ······​</​ExternalReferenceList​>
406934 ······​<DisorderDisorderAsso​ciationList·​count="0">406875 ······​<DisorderDisorderAsso​ciationList·​count="0">
406935 ······​</​DisorderDisorderAssoc​iationList>406876 ······​</​DisorderDisorderAssoc​iationList>
406936 ······​<SummaryInformationLi​st·​count="1">406877 ······​<SummaryInformationLi​st·​count="0">
406937 ········<SummaryInformation·id="-​1"·lang="nl">
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406939 ··········</​TextSectionList>
406940 ··········<TextAuto>
406941 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
406942 ··········</​TextAuto>
406943 ········</​SummaryInformation>
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406945 ····​</​Disorder>406879 ····​</​Disorder>
406946 ····​<Disorder·​id="21147">406880 ····​<Disorder·​id="21147">
407029 ····​<Disorder·​id="21146">406963 ····​<Disorder·​id="21146">
407030 ······​<OrphaCode>300857</​OrphaCode>406964 ······​<OrphaCode>300857</​OrphaCode>
407031 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300857</​ExpertLink>406965 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300857</​ExpertLink>
407032 ······​<Name·​lang="nl">T-​cel/​histiocyt-​rijk·​grootcellig·​B-​cellymfoom</​Name>406966 ······​<Name·​lang="nl">T-​cel/​histiocytenrijk·​grootcellig·​B-​cellymfoom</​Name>
407033 ······​<DisorderFlagList·​count="1">406967 ······​<DisorderFlagList·​count="1">
407034 ········​<DisorderFlag·​id="475">406968 ········​<DisorderFlag·​id="475">
407035 ··········​<Value>1</​Value>406969 ··········​<Value>1</​Value>
407175 ····​<Disorder·​id="21148">407109 ····​<Disorder·​id="21148">
407176 ······​<OrphaCode>300869</​OrphaCode>407110 ······​<OrphaCode>300869</​OrphaCode>
407177 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300869</​ExpertLink>407111 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300869</​ExpertLink>
407178 ······​<Name·​lang="nl">Splenisch·​diffuus·​kleincellig·​B-​cellymfoom·​van·de·​rode·​pulpa</​Name>407112 ······​<Name·​lang="nl">Splenisch·​diffuus·​kleincellig·​B-​cellymfoom·​van·​rode·​pulpa</​Name>
407179 ······​<DisorderFlagList·​count="1">407113 ······​<DisorderFlagList·​count="1">
407180 ········​<DisorderFlag·​id="475">407114 ········​<DisorderFlag·​id="475">
407181 ··········​<Value>1</​Value>407115 ··········​<Value>1</​Value>
407182 ··········​<Label></​Label>407116 ··········​<Label></​Label>
407183 ········​</​DisorderFlag>407117 ········​</​DisorderFlag>
407184 ······​</​DisorderFlagList>407118 ······​</​DisorderFlagList>
407185 ······​<SynonymList·​count="2">407119 ······​<SynonymList·​count="3">
407120 ········​<Synonym·​lang="nl">Diffuus·​kleincellig·​B-​cellymfoom·​van·​rode·​pulpa·​van·​milt</​Synonym>
407186 ········​<Synonym·​lang="nl">SDRPL</​Synonym>407121 ········​<Synonym·​lang="nl">SDRPL</​Synonym>
407187 ········​<Synonym·​lang="nl">Splenisch·​diffuus·​lymfoom·​van·de·​rode·​pulpa</​Synonym>407122 ········​<Synonym·​lang="nl">Splenisch·​diffuus·​lymfoom·​van·​rode·​pulpa</​Synonym>
407188 ······​</​SynonymList>407123 ······​</​SynonymList>
407189 ······​<DisorderType·​id="21394">407124 ······​<DisorderType·​id="21394">
407190 ········​<Name·​lang="nl">Ziekte</​Name>407125 ········​<Name·​lang="nl">Ziekte</​Name>
407605 ······​</​ExternalReferenceList​>407540 ······​</​ExternalReferenceList​>
407606 ······​<DisorderDisorderAsso​ciationList·​count="0">407541 ······​<DisorderDisorderAsso​ciationList·​count="0">
407607 ······​</​DisorderDisorderAssoc​iationList>407542 ······​</​DisorderDisorderAssoc​iationList>
407608 ······​<SummaryInformationLi​st·​count="1">407543 ······​<SummaryInformationLi​st·​count="0">
407609 ········<SummaryInformation·id="-​1"·lang="nl">
407610 ··········<TextSectionList·count="0">
407611 ··········</​TextSectionList>
407612 ··········<TextAuto>
407613 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
407614 ··········</​TextAuto>
407615 ········</​SummaryInformation>
407616 ······​</​SummaryInformationLis​t>407544 ······​</​SummaryInformationLis​t>
407617 ····​</​Disorder>407545 ····​</​Disorder>
407618 ····​<Disorder·​id="21142">407546 ····​<Disorder·​id="21142">
407721 ····​<Disorder·​id="21153">407649 ····​<Disorder·​id="21153">
407722 ······​<OrphaCode>300912</​OrphaCode>407650 ······​<OrphaCode>300912</​OrphaCode>
407723 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300912</​ExpertLink>407651 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=300912</​ExpertLink>
407724 ······​<Name·​lang="nl">Marginale·​zone-​lymfoom</​Name>407652 ······​<Name·​lang="nl">Marginale·​zone·lymfoom</​Name>
407725 ······​<DisorderFlagList·​count="1">407653 ······​<DisorderFlagList·​count="1">
407726 ········​<DisorderFlag·​id="475">407654 ········​<DisorderFlag·​id="475">
407727 ··········​<Value>1</​Value>407655 ··········​<Value>1</​Value>
407751 ······​</​ExternalReferenceList​>407679 ······​</​ExternalReferenceList​>
407752 ······​<DisorderDisorderAsso​ciationList·​count="0">407680 ······​<DisorderDisorderAsso​ciationList·​count="0">
407753 ······​</​DisorderDisorderAssoc​iationList>407681 ······​</​DisorderDisorderAssoc​iationList>
407754 ······​<SummaryInformationLi​st·​count="1">407682 ······​<SummaryInformationLi​st·​count="0">
407755 ········<SummaryInformation·id="-​1"·lang="nl">
407756 ··········<TextSectionList·count="0">
407757 ··········</​TextSectionList>
407758 ··········<TextAuto>
407759 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
407760 ··········</​TextAuto>
407761 ········</​SummaryInformation>
407762 ······​</​SummaryInformationLis​t>407683 ······​</​SummaryInformationLis​t>
407763 ····​</​Disorder>407684 ····​</​Disorder>
407764 ····​<Disorder·​id="21184">407685 ····​<Disorder·​id="21184">
408708 ····​<Disorder·​id="21218">408629 ····​<Disorder·​id="21218">
408709 ······​<OrphaCode>306498</​OrphaCode>408630 ······​<OrphaCode>306498</​OrphaCode>
408710 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=306498</​ExpertLink>408631 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=306498</​ExpertLink>
408711 ······​<Name·​lang="nl">PTEN-​hamartoomtumorsyndroo​m</​Name>408632 ······​<Name·​lang="nl">PTEN-​hamartoom-​tumorsyndroom</​Name>
408712 ······​<DisorderFlagList·​count="1">408633 ······​<DisorderFlagList·​count="1">
408713 ········​<DisorderFlag·​id="475">408634 ········​<DisorderFlag·​id="475">
408714 ··········​<Value>1</​Value>408635 ··········​<Value>1</​Value>
409142 ······​</​ExternalReferenceList​>409063 ······​</​ExternalReferenceList​>
409143 ······​<DisorderDisorderAsso​ciationList·​count="0">409064 ······​<DisorderDisorderAsso​ciationList·​count="0">
409144 ······​</​DisorderDisorderAssoc​iationList>409065 ······​</​DisorderDisorderAssoc​iationList>
409145 ······​<SummaryInformationLi​st·​count="1">409066 ······​<SummaryInformationLi​st·​count="0">
409146 ········<SummaryInformation·id="-​1"·lang="nl">
409147 ··········<TextSectionList·count="0">
409148 ··········</​TextSectionList>
409149 ··········<TextAuto>
409150 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
409151 ··········</​TextAuto>
409152 ········</​SummaryInformation>
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409154 ····​</​Disorder>409068 ····​</​Disorder>
409155 ····​<Disorder·​id="21243">409069 ····​<Disorder·​id="21243">
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414561 ······​<DisorderDisorderAsso​ciationList·​count="0">414475 ······​<DisorderDisorderAsso​ciationList·​count="0">
414562 ······​</​DisorderDisorderAssoc​iationList>414476 ······​</​DisorderDisorderAssoc​iationList>
414563 ······​<SummaryInformationLi​st·​count="0">414477 ······​<SummaryInformationLi​st·​count="1">
414478 ········​<SummaryInformation·​id="129157"·​lang="nl">
414479 ··········​<TextSectionList·​count="1">
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414481 ··············​<TextSectionType·​id="16907">
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414484 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​syndroom·​met·​intellectuele·​achterstand,​·​gekarakteriseerd·​door·​ernstige·​algehele·​ontwikkelingsachterst​and·​met·​intellectuele·​achterstand,​·​microcefalie,​·​groeiretardatie,​·​oogdefecten·​zoals·​congenitaal·​cataract,​·​en·​naevus·​flammeus·​simplex·​op·​het·​voorhoofd.​·​Urogenitale·​afwijkingen·​en·​hart-​·​en·​skeletanomalieën,​·​alsook·​insulten·​zijn·​aanwezig·​bij·​de·​meeste·​patiënten.​·​Dysmorfe·​craniofaciale·​kenmerken·​zijn·​onder·​meer·​schaars·​haar,​·​schuin·​naar·​beneden·​hellende·​ooglidspleten,​·​hypertelorisme,​·​brede·​en·​overhangende·​neuspunt,​·​en·​kort·​filtrum.​</​Contents>
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415990 ··············​<Contents>Een·​zeldzaam·​hereditair·​kankerpredispositiesy​ndroom,​·​gekarakteriseerd·​door·​voorkomen·​van·​multipele·​synchrone·​primaire·​carcinoïden·​van·​dunne·​darm.​·​De·​klinische·​presentatie·​valt·​niet·​te·​onderscheiden·​van·​sporadische·​carcinoïden,​·​en·​omvat·​onder·​meer·​abdominale·​pijn,​·​blozen·​en·​diarree,​·​en·​manifesteert·​zich·​vaak·​pas·​na·​een·​lange·​asymptomatische·​periode.​·​De·​meeste·​patiënten·​vertonen·​laaggradige·​tumoren.​·​Voorkomen·​van·​pulmonaal·​carcinoïd·​werd·​ook·​reeds·​gerapporteerd.​</​Contents>
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416055 ····​</​Disorder>415995 ····​</​Disorder>
416056 ····​<Disorder·​id="23676">415996 ····​<Disorder·​id="23676">
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417158 ··············​<Contents>Een·​zeldzame·​verworven·​aandoening·​van·​huid,​·​gekarakteriseerd·​door·​goedaardige·​proliferatie·​van·​rijpe·​plasmacellen·​en·​een·​typische·​triade·​van·​huidlaesies,​·​polyklonale·​hypergammaglobulinemi​e,​·​en·​oppervlakkige·​lymfadenopathie,​·​zonder·​een·​aanwijsbare·​onderliggende·​oorzaak.​·​De·​huidlaesies·​bestaan·​uit·​meerdere·​ronde·​tot·​ovale,​·​rode·​tot·​donkerbruine·​maculae,​·​papels·​en·​plaques·​die·​doorgaans·​worden·​aangetroffen·​op·​de·​romp,​·​maar·​ook·​het·​gelaat,​·​de·​hals·​en·​de·​oksels.​</​Contents>
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417214 ····​<Disorder·​id="23642">417164 ····​<Disorder·​id="23642">
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420833 ··············​<Contents>Een·​zeldzaam·​genetisch·​syndroom·​met·​multipele·​congenitale·​anomalieën/​dysmorfie,​·​gekarakteriseerd·​door·​algehele·​ontwikkelingsachterst​and·​en·​intellectuele·​achterstand,​·​progressieve·​spondylo-​epimetafysaire·​dysplasie,​·​kleine·​gestalte,​·​korte·​vierde·​metatarsalen,​·​en·​dysmorfe·​craniofaciale·​kenmerken·​(waaronder·​microcefalie,​·​hypertelorisme,​·​epicanthusplooien,​·​milde·​ptose,​·​strabisme,​·​hypoplasie·​van·​jukbeenderen,​·​korte·​neus,​·​ingezakte·​neusbrug,​·​volle·​lippen,​·​kleine·​en·​laagstaande·​oren,​·​en·​korte·​hals)​.​·​Craniosynostose,​·​gegeneraliseerde·​hypotonie,​·​alsook·​asymmetrie·​van·​de·​cerebrale·​hemisferen·​en·​milde·​verdunning·​van·​het·​corpus·​callosum·​waargenomen·​bij·​beeldvorming·​van·​de·​hersenen·​werden·​ook·​reeds·​beschreven.​</​Contents>
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420865 ····​</​Disorder>420838 ····​</​Disorder>
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423170 ··············​<Contents>Occipitale·hoornsyndroom·(OHS)​·is·een·milde·vorm·van·de·ziekte·van·Menkes·(MD,​·zie·deze·term)​,​·een·syndroom·gekenmerkt·door·progressieve·neurodegeneratie·en·​bindweefselaandoening​en·​als·gevolg·​van·​een·kopertransportdefect.​</​Contents>423143 ··············​<Contents>Een·zeldzame·congenitale·aandoening·van·kopermetabolisme,​·hoofdzakelijk·gekarakteriseerd·door·benige·​exostosen·(inclusief·de·pathognomonische·occipitale·hoorns)​·en·manifestaties·van·​bindweefsel,​·zoals·cutis·laxa·en·blaasdivertikels.​·Betrokkenheid·​van·centraal·zenuwstelsel·is·variabel.​</​Contents>
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423836 ··············​<Contents>Een·​zeldzame·​tumor·​van·​weke·​delen,​·​gekarakteriseerd·​door·​een·​drukkende·​massa·​gesitueerd·​in·​mediastinum·​en/​of·​pleura·​en·​long,​·​prominente·​betrokkenheid·​van·​lymfeklieren,​·​histologisch·​slecht·​gedifferentieerd,​·​en·​vaak·​met·​rhabdoïde·​kenmerken.​·​Verlies·​van·​SMARCA4·​gaat·​doorgaans·​gepaard·​met·​SMARCA2-​deficiëntie.​·​Presenterende·​symptomen·​zijn·​onder·​meer·​dyspneu,​·​hoest,​·​pijn·​op·​borst,​·​of·​dysfagie.​·​De·​tumoren·​zijn·​agressief·​en·​worden·​gekenmerkt·​door·​beperkte·​respons·​op·​chemotherapie,​·​snelle·​locale·​progressie,​·​hoog·​recidiefpercentage·​na·​operatieve·​excisie,​·​en·​korte·​mediane·​overleving.​·​Er·​is·​een·​sterke·​associatie·​met·​roken.​</​Contents>
423837 ············​</​TextSection>
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423839 ········​</​SummaryInformation>
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423872 ····​</​Disorder>423841 ····​</​Disorder>
423873 ····​<Disorder·​id="24183">423842 ····​<Disorder·​id="24183">
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425147 ··············​<Contents>Een·​zeldzame,​·​genetische·​malformatie·​van·​centraal·​zenuwstelsel,​·​gekarakteriseerd·​door·​dysplasie·​van·​het·​bovenste·​deel·​van·​het·​cerebellum·​(vooral·​de·​vermis)​,​·​asymmetrie·​van·​de·​hersenstam,​·​dysplasie·​van·​basale·​ganglia,​·​en·​onregelmatigheden·​van·​de·​cortex·​met·​asymmetrische·​afwijkingen·​van·​grootte·​en·​oriëntatie·​van·​gyri,​·​alsook·​variërende·​diepte·​van·​sulci,​·​maar·​zonder·​lissencefalie,​·​pachygyrie,​·​of·​polymicrogyrie.​·​Klinisch·​vertonen·​patiënten·​algehele·​ontwikkelingsachterst​and,​·​waarbij·​de·​motorische·​ontwikkeling·​meestal·​meer·​aangetast·​wordt·​dan·​de·​spraak.​·​Variabele·​kenmerken·​zijn·​abnormale·​oogbewegingen·​waaronder·​oculomotorische·​apraxie,​·​strabisme,​·​insulten,​·​en·​gedragsproblemen.​</​Contents>
425148 ············​</​TextSection>
425149 ··········​</​TextSectionList>
425150 ········​</​SummaryInformation>
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425173 ····​</​Disorder>425152 ····​</​Disorder>
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426109 ······​</​DisorderFlagList>426088 ······​</​DisorderFlagList>
426110 ······​<SynonymList·​count="0">426089 ······​<SynonymList·​count="2">
426090 ········​<Synonym·​lang="nl">BBSOAS</​Synonym>
426091 ········​<Synonym·​lang="nl">Syndroom·​van·​opticusatrofie·​van·​Bosch-​Boonstra-​Schaaf</​Synonym>
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429612 ······​<Name·​lang="nl">Vrouwelijke​·onvruchtbaarheid·​door·​zona·​pellucida-​defect</​Name>429586 ······​<Name·​lang="nl">Vrouwelijke​·infertiliteit·​door·defect·van·​zona·​pellucida</​Name>
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431222 ······​<Name·​lang="nl">Insuline·auto-​immuun·​syndroom</​Name>431189 ······​<Name·​lang="nl">Insuline-​auto-​immuun·​syndroom</​Name>
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435684 ··············​<Contents>Een·​zeldzame·​urogenitale·​tumor,​·​gekarakteriseerd·​door·​een·​oorsprong·​in·​squameuze·​epitheelcellen·​van·​de·​penis,​·​doorgaans·​de·​eikel·​of·​de·​binnenzijde·​van·​de·​voorhuid.​·​Macroscopisch·​kunnen·​de·​tumoren·​er·​papillair·​of·​plat·​en·​ulcererend·​uitzien.​·​Histologische·​subtypes·​zijn·​onder·​meer·​gewoon·​plaveiselcelcarcinoom​·​als·​meest·​gangbare·​type,​·​alsook·​basaloïd,​·​wrattig,​·​verruceus,​·​papillair,​·​en·​gemengd·​carcinoom.​·​Patiënten·​kunnen·​initieel·​asymptomatisch·​zijn,​·​maar·​vertonen·​jeuk,​·​bloeding,​·​afscheiding,​·​onaangename·​geur,​·​en·​pijn·​naarmate·​de·​ziekte·​vordert.​·​Betrokkenheid·​van·​regionale·​lymfeklieren·​is·​gangbaar,​·​terwijl·​metastasen·​op·​afstand·​pas·​in·​latere·​stadia·​van·​de·​ziekte·​optreden.​·​Risicofactoren·​zijn·​onder·​meer·​HPV-​infectie,​·​roken,​·​ondermaatse·​hygiëne,​·​en·​HIV-​infectie.​·​Neonatale·​besnijdenis·​biedt·​vermoedelijk·​sterke·​bescherming.​</​Contents>
435685 ············​</​TextSection>
435686 ··········​</​TextSectionList>
435687 ········​</​SummaryInformation>
435711 ······​</​SummaryInformationLis​t>435688 ······​</​SummaryInformationLis​t>
435712 ····​</​Disorder>435689 ····​</​Disorder>
435713 ····​<Disorder·​id="22717">435690 ····​<Disorder·​id="22717">
435923 ······​</​ExternalReferenceList​>435900 ······​</​ExternalReferenceList​>
435924 ······​<DisorderDisorderAsso​ciationList·​count="0">435901 ······​<DisorderDisorderAsso​ciationList·​count="0">
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436506 ······​<Name·​lang="nl">Sacrale·​agenesie·​-​·​abnormale·​ossificatie·​van·de·​wervellichamen·​-​·​persisterende·​chorda·​dorsalis-​syndroom</​Name>436476 ······​<Name·​lang="nl">Sacrale·​agenesie·​-​·​abnormale·​ossificatie·​van·​wervellichamen·​-​·​persisterende·​chorda·​dorsalis-​syndroom</​Name>
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436730 ······​<Name·​lang="nl">Periodieke·verlamming·​met·​voorbijgaand·​compartimentachtig·​syndroom</​Name>436700 ······​<Name·​lang="nl">Periodieke·paralyse·​met·​voorbijgaand·​compartimentachtig·​syndroom</​Name>
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436898 ······​<Name·​lang="nl">Periodieke·verlamming·​met·​later·aanvangende·​distale·​motorneuropathie</​Name>436868 ······​<Name·​lang="nl">Periodieke·paralyse·​met·​later·optredende·​distale·​motorische·neuropathie</​Name>
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437665 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=397593</​ExpertLink>437635 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=397593</​ExpertLink>
437666 ······​<Name·​lang="nl">Ernstige·​neonatale·melkzuuracidose·​door·​NFS1-​ISD11-​complexdeficiëntie</​Name>437636 ······​<Name·​lang="nl">Ernstige·​neonatale·lactaatacidose·​door·deficiëntie·van·​NFS1-​ISD11-​complex</​Name>
437667 ······​<DisorderFlagList·​count="1">437637 ······​<DisorderFlagList·​count="1">
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438632 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=399808</​ExpertLink>438602 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=399808</​ExpertLink>
438633 ······​<Name·​lang="nl">Mannelijke·onvruchtbaarheid·​met·​teratozoöspermie·​door·​een·​enkele·​genmutatie</​Name>438603 ······​<Name·​lang="nl">Mannelijke·infertiliteit·​met·​teratozoöspermie·​door·​een·​enkele·​genmutatie</​Name>
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439956 ······​<Name·​lang="nl">Finse·distale·​myopathie·​met·​aanvang·​in·de·​bovenste·​ledematen</​Name>439926 ······​<Name·​lang="nl">Distale·​myopathie·​met·​aanvang·​in·​bovenste·​ledematen,​·Fins·type</​Name>
439957 ······​<DisorderFlagList·​count="1">439927 ······​<DisorderFlagList·​count="1">
439958 ········​<DisorderFlag·​id="475">439928 ········​<DisorderFlag·​id="475">
439959 ··········​<Value>1</​Value>439929 ··········​<Value>1</​Value>
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440474 ······​<SummaryInformationLi​st·​count="1">440444 ······​<SummaryInformationLi​st·​count="0">
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440476 ··········<TextSectionList·count="0">
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440478 ··········<TextAuto>
440479 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
440480 ··········</​TextAuto>
440481 ········</​SummaryInformation>
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440484 ····​<Disorder·​id="22741">440447 ····​<Disorder·​id="22741">
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440559 ········<SummaryInformation·id="-​1"·lang="nl">
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440561 ··········</​TextSectionList>
440562 ··········<TextAuto>
440563 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
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440567 ····​</​Disorder>440523 ····​</​Disorder>
440568 ····​<Disorder·​id="22743">440524 ····​<Disorder·​id="22743">
441423 ······​</​DisorderFlagList>441379 ······​</​DisorderFlagList>
441424 ······​<SynonymList·​count="3">441380 ······​<SynonymList·​count="3">
441425 ········​<Synonym·​lang="nl">Neonataal·​APS</​Synonym>441381 ········​<Synonym·​lang="nl">Neonataal·​APS</​Synonym>
441426 ········​<Synonym·​lang="nl">Neonataal·Hughessyndroom</​Synonym>441382 ········​<Synonym·​lang="nl">Neonataal·antifosfolipide-​antilichaamsyndroom</​Synonym>
441427 ········​<Synonym·​lang="nl">Neonataal·antifosfolipiden-​antilichamensyndroom<​/​Synonym>441383 ········​<Synonym·​lang="nl">Neonataal·syndroom·van·Hughes</​Synonym>
441428 ······​</​SynonymList>441384 ······​</​SynonymList>
441429 ······​<DisorderType·​id="21394">441385 ······​<DisorderType·​id="21394">
441430 ········​<Name·​lang="nl">Ziekte</​Name>441386 ········​<Name·​lang="nl">Ziekte</​Name>
441465 ····​<Disorder·​id="22726">441421 ····​<Disorder·​id="22726">
441466 ······​<OrphaCode>398109</​OrphaCode>441422 ······​<OrphaCode>398109</​OrphaCode>
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441468 ······​<Name·​lang="nl">Neonatale·​auto-​immune·​hemolytische·​anemie</​Name>441424 ······​<Name·​lang="nl">Neonatale·​auto-​immuun·​hemolytische·​anemie</​Name>
441469 ······​<DisorderFlagList·​count="1">441425 ······​<DisorderFlagList·​count="1">
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441471 ··········​<Value>1</​Value>441427 ··········​<Value>1</​Value>
444568 ······​</​ExternalReferenceList​>444524 ······​</​ExternalReferenceList​>
444569 ······​<DisorderDisorderAsso​ciationList·​count="0">444525 ······​<DisorderDisorderAsso​ciationList·​count="0">
444570 ······​</​DisorderDisorderAssoc​iationList>444526 ······​</​DisorderDisorderAssoc​iationList>
444571 ······​<SummaryInformationLi​st·​count="0">444527 ······​<SummaryInformationLi​st·​count="1">
444528 ········​<SummaryInformation·​id="128984"·​lang="nl">
444529 ··········​<TextSectionList·​count="1">
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444531 ··············​<TextSectionType·​id="16907">
444532 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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444534 ··············​<Contents>Een·​zeldzame·​congenitale·​myopathie,​·​gekarakteriseerd·​door·​vroege·​aanvang·​van·​ernstige·​spierzwakte,​·​ademnood·​door·​verlamming·​van·​het·​diafragma,​·​dysfagie·​en·​areflexie,​·​gewrichtscontracturen​,​·​en·​scoliose.​·​Bij·​sommige·​individuen·​wordt·​een·​vermindering·​van·​de·​foetale·​bewegingen·​waargenomen.​·​Spierbiopsie·​toont·​mogelijk·​een·​combinatie·​van·​dystrofische·​en·​myopathische·​kenmerken.​·​Het·​klinische·​verloop·​is·​variabel,​·​en·​sommige·​patiënten·​worden·​afhankelijk·​van·​kunstmatige·​beademing·​en·​verkrijgen·​nooit·​zelfstandig·​loopvermogen.​</​Contents>
444535 ············​</​TextSection>
444536 ··········​</​TextSectionList>
444537 ········​</​SummaryInformation>
444572 ······​</​SummaryInformationLis​t>444538 ······​</​SummaryInformationLis​t>
444573 ····​</​Disorder>444539 ····​</​Disorder>
444574 ····​<Disorder·​id="23381">444540 ····​<Disorder·​id="23381">
445693 ····​<Disorder·​id="23402">445659 ····​<Disorder·​id="23402">
445694 ······​<OrphaCode>440368</​OrphaCode>445660 ······​<OrphaCode>440368</​OrphaCode>
445695 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=440368</​ExpertLink>445661 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=440368</​ExpertLink>
445696 ······​<Name·​lang="nl">Necrotisere​nde·wekedeleninfectie</​Name>445662 ······​<Name·​lang="nl">Necrotisere​nde·infectie·van·weke·delen</​Name>
445697 ······​<DisorderFlagList·​count="1">445663 ······​<DisorderFlagList·​count="1">
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445699 ··········​<Value>1</​Value>445665 ··········​<Value>1</​Value>
446278 ··········​</​DisorderDisorderAssoc​iationType>446244 ··········​</​DisorderDisorderAssoc​iationType>
446279 ········​</​DisorderDisorderAssoc​iation>446245 ········​</​DisorderDisorderAssoc​iation>
446280 ······​</​DisorderDisorderAssoc​iationList>446246 ······​</​DisorderDisorderAssoc​iationList>
446281 ······​<SummaryInformationLi​st·​count="1">446247 ······​<SummaryInformationLi​st·​count="0">
446282 ········<SummaryInformation·id="-​1"·lang="nl">
446283 ··········<TextSectionList·count="0">
446284 ··········</​TextSectionList>
446285 ··········<TextAuto>
446286 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
446287 ··········</​TextAuto>
446288 ········</​SummaryInformation>
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446290 ····​</​Disorder>446249 ····​</​Disorder>
446291 ····​<Disorder·​id="23422">446250 ····​<Disorder·​id="23422">
448260 ····​<Disorder·​id="23454">448219 ····​<Disorder·​id="23454">
448261 ······​<OrphaCode>443287</​OrphaCode>448220 ······​<OrphaCode>443287</​OrphaCode>
448262 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=443287</​ExpertLink>448221 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=443287</​ExpertLink>
448263 ······​<Name·​lang="nl">ACTH-​onafhankelijk·Cushingsyndroom·door·een·​zeldzame·​cortisolproducerende·​adrenale·​tumor</​Name>448222 ······​<Name·​lang="nl">ACTH-​onafhankelijk·​syndroom·van·Cushing·door·​zeldzame·​cortisolproducerende·​adrenale·​tumor</​Name>
448264 ······​<DisorderFlagList·​count="1">448223 ······​<DisorderFlagList·​count="1">
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450544 ······​<DisorderDisorderAsso​ciationList·​count="0">450503 ······​<DisorderDisorderAsso​ciationList·​count="0">
450545 ······​</​DisorderDisorderAssoc​iationList>450504 ······​</​DisorderDisorderAssoc​iationList>
450546 ······​<SummaryInformationLi​st·​count="0">450505 ······​<SummaryInformationLi​st·​count="1">
450506 ········​<SummaryInformation·​id="129112"·​lang="nl">
450507 ··········​<TextSectionList·​count="1">
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450509 ··············​<TextSectionType·​id="16907">
450510 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
450511 ··············​</​TextSectionType>
450512 ··············​<Contents>Een·​zeldzame,​·​genetische·​aandoening·​van·​huid,​·​gekarakteriseerd·​door·​gegeneraliseerde·​afschilfering·​van·​huid,​·​leukonychie,​·​meervoudige·​acrale·​keratosis·​punctata·​die·​samenvloeit·​tot·​focale·​keratodermie·​op·​gewichtsdragende·​gebieden,​·​cheilitis·​angularis,​·​en·​knokkelkussentjes·​met·​multipele·​hyperkeratotische·​micropapels.​·​De·​huid·​lijkt·​droog·​en·​schilferig·​met·​oppervlakkige·​exfoliatie·​en·​onderliggend·​erytheem.​·​Histopathologisch·​onderzoek·​van·​getroffen·​delen·​van·​de·​huid·​toont·​hyperkeratose,​·​acanthose,​·​en·​intra-​epidermale·​schisis·​met·​onregelmatige·​acantholyse.​·​Bijkomende·​systemische·​afwijkingen·​zijn·​afwezig.​</​Contents>
450513 ············​</​TextSection>
450514 ··········​</​TextSectionList>
450515 ········​</​SummaryInformation>
450547 ······​</​SummaryInformationLis​t>450516 ······​</​SummaryInformationLis​t>
450548 ····​</​Disorder>450517 ····​</​Disorder>
450549 ····​<Disorder·​id="23473">450518 ····​<Disorder·​id="23473">
451021 ····​<Disorder·​id="23490">450990 ····​<Disorder·​id="23490">
451022 ······​<OrphaCode>444463</​OrphaCode>450991 ······​<OrphaCode>444463</​OrphaCode>
451023 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=444463</​ExpertLink>450992 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=444463</​ExpertLink>
451024 ······​<Name·​lang="nl">Auto-​immune·​hemolytische·​anemie·​-​·​auto-​immune·​trombocytopenie·​-​·​primaire·​immuundeficiëntie-​syndroom</​Name>450993 ······​<Name·​lang="nl">Auto-​immuun·​hemolytische·​anemie·​-​·​auto-​immuun·​trombocytopenie·​-​·​primaire·​immuundeficiëntie-​syndroom</​Name>
451025 ······​<DisorderFlagList·​count="1">450994 ······​<DisorderFlagList·​count="1">
451026 ········​<DisorderFlag·​id="475">450995 ········​<DisorderFlag·​id="475">
451027 ··········​<Value>1</​Value>450996 ··········​<Value>1</​Value>
451029 ········​</​DisorderFlag>450998 ········​</​DisorderFlag>
451030 ······​</​DisorderFlagList>450999 ······​</​DisorderFlagList>
451031 ······​<SynonymList·​count="3">451000 ······​<SynonymList·​count="3">
451032 ········​<Synonym·​lang="nl">Evanssyndro​om·​geassocieerd·​met·​primaire·​immuundeficiëntie</​Synonym>451001 ········​<Synonym·​lang="nl">Syndroom·van·Evans·​geassocieerd·​met·​primaire·​immuundeficiëntie</​Synonym>
451033 ········​<Synonym·​lang="nl">TPPII-​gerelateerde·​immuundeficiëntie,​·​auto-​immuniteit·​en·​neuro-​ontwikkelingsachterst​and·​met·​verstoorde·​glycolyse·​en·​lysosomale·​expansie</​Synonym>451002 ········​<Synonym·​lang="nl">TPPII-​gerelateerde·​immuundeficiëntie,​·​auto-​immuniteit·​en·​neuro-​ontwikkelingsachterst​and·​met·​verstoorde·​glycolyse·​en·​lysosomale·​expansie</​Synonym>
451034 ········​<Synonym·​lang="nl">TRIANGLE-​ziekte</​Synonym>451003 ········​<Synonym·​lang="nl">TRIANGLE-​ziekte</​Synonym>
451035 ······​</​SynonymList>451004 ······​</​SynonymList>
453561 ··············​<TextSectionType·​id="16907">453530 ··············​<TextSectionType·​id="16907">
453562 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>453531 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
453563 ··············​</​TextSectionType>453532 ··············​</​TextSectionType>
453564 ··············​<Contents>Overgroeisy​ndroom·van·Malan·is·een·syndroom·met·meervoudige·congenitale·​anomalieën·dat·​gekarakteriseerd·wordt·​door·matige·postnatale·overgroei,​·macrocefalie,​·craniofaciale·dysmorfie·(met·een·hoog·voorhoofd·en·hoge·voorste·haarlijn,​·schuin·aflopende·ooglidspleten,​·een·prominente·kin)​,​·ontwikkelingsachterst​and,​·en·​intellectuele·​achterstand.​·Bijkomende·variabele·manifestaties·zijn·ongewoon·gedrag,​·met·of·zonder·autistische·kenmerken,​·alsook·oculaire·(e.​g.​·strabisme,​·nystagmus,​·bleekheid/​hypoplasie·van·de·papil)​,​·gastro-​intestinale·(e.​g.​·braken,​·chronische·diarree,​·constipatie)​,​·musculoskeletale·(e.​g.​·scoliose·en·pectus·excavatum·(trechterborst)​)​,​·hand/​voet-​·(e.​g.​·lange,​·spitse·vingers)​,​·​en·centraal·zenuwstelsel-​·(e.​g.​·licht·vergrote·ventrikels)​·anomalieën.​</​Contents>453533 ··············​<Contents>Een·zeldzame·multisystemische·genetische·​aandoening,​·​gekarakteriseerd·​door·​typische·​gelaatskenmerken·met·macrocefalie,​·overgroei·​in·de·zuigelingentijd,​·​intellectuele·​achterstand,​·​en·​gedragsproblemen·waaronder·​angsten·​en·​agressie.​</​Contents>
453565 ············​</​TextSection>453534 ············​</​TextSection>
453566 ··········​</​TextSectionList>453535 ··········​</​TextSectionList>
453567 ········​</​SummaryInformation>453536 ········​</​SummaryInformation>
454417 ····​<Disorder·​id="23104">454386 ····​<Disorder·​id="23104">
454418 ······​<OrphaCode>420402</​OrphaCode>454387 ······​<OrphaCode>420402</​OrphaCode>
454419 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=420402</​ExpertLink>454388 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=420402</​ExpertLink>
454420 ······​<Name·​lang="nl">Semicircula​ir·kanaal-​dehiscentiesyndroom</​Name>454389 ······​<Name·​lang="nl">Dehiscentie​·van·canalis·semicircularis-​syndroom</​Name>
454421 ······​<DisorderFlagList·​count="1">454390 ······​<DisorderFlagList·​count="1">
454422 ········​<DisorderFlag·​id="475">454391 ········​<DisorderFlag·​id="475">
454423 ··········​<Value>1</​Value>454392 ··········​<Value>1</​Value>
454424 ··········​<Label></​Label>454393 ··········​<Label></​Label>
454425 ········​</​DisorderFlag>454394 ········​</​DisorderFlag>
454426 ······​</​DisorderFlagList>454395 ······​</​DisorderFlagList>
454427 ······​<SynonymList·​count="1">454396 ······​<SynonymList·​count="2">
454397 ········​<Synonym·​lang="nl">'Semicircul​ar·​canal·​deshiscence'-​syndroom</​Synonym>
454428 ········​<Synonym·​lang="nl">SCD-​syndroom</​Synonym>454398 ········​<Synonym·​lang="nl">SCD-​syndroom</​Synonym>
454429 ······​</​SynonymList>454399 ······​</​SynonymList>
454430 ······​<DisorderType·​id="21422">454400 ······​<DisorderType·​id="21422">
455487 ······​</​ExternalReferenceList​>455457 ······​</​ExternalReferenceList​>
455488 ······​<DisorderDisorderAsso​ciationList·​count="0">455458 ······​<DisorderDisorderAsso​ciationList·​count="0">
455489 ······​</​DisorderDisorderAssoc​iationList>455459 ······​</​DisorderDisorderAssoc​iationList>
455490 ······​<SummaryInformationLi​st·​count="1">455460 ······​<SummaryInformationLi​st·​count="0">
455491 ········<SummaryInformation·id="-​1"·lang="nl">
455492 ··········<TextSectionList·count="0">
455493 ··········</​TextSectionList>
455494 ··········<TextAuto>
455495 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
455496 ··········</​TextAuto>
455497 ········</​SummaryInformation>
455498 ······​</​SummaryInformationLis​t>455461 ······​</​SummaryInformationLis​t>
455499 ····​</​Disorder>455462 ····​</​Disorder>
455500 ····​<Disorder·​id="23164">455463 ····​<Disorder·​id="23164">
455847 ····​<Disorder·​id="23137">455810 ····​<Disorder·​id="23137">
455848 ······​<OrphaCode>422519</​OrphaCode>455811 ······​<OrphaCode>422519</​OrphaCode>
455849 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=422519</​ExpertLink>455812 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=422519</​ExpertLink>
455850 ······​<Name·​lang="nl">OBSOLEET:​·​3-​Fosfoglyceraatdehydro​genasedeficiëntie</​Name>455813 ······​<Name·​lang="nl">OBSOLEET:​·Deficiëntie·van·​3-​fosfoglyceraatdehydro​genase</​Name>
455851 ······​<DisorderFlagList·​count="2">455814 ······​<DisorderFlagList·​count="2">
455852 ········​<DisorderFlag·​id="495">455815 ········​<DisorderFlag·​id="495">
455853 ··········​<Value>8192</​Value>455816 ··········​<Value>8192</​Value>
455873 ········​<DisorderDisorderAsso​ciation>455836 ········​<DisorderDisorderAsso​ciation>
455874 ··········​<TargetDisorder·​id="11377">455837 ··········​<TargetDisorder·​id="11377">
455875 ············​<OrphaCode>79351</​OrphaCode>455838 ············​<OrphaCode>79351</​OrphaCode>
455876 ············​<Name·​lang="nl">3-​Fosfoglyceraatdehydro​genasedeficiëntie,​·​infantiele/​juveniele·​vorm</​Name>455839 ············​<Name·​lang="nl">Deficiëntie​·van·3-​fosfoglyceraatdehydro​genase,​·​infantiele/​juveniele·​vorm</​Name>
455877 ··········​</​TargetDisorder>455840 ··········​</​TargetDisorder>
455878 ··········​<RootDisorder·​id="23137"·​cycle="true"/​>455841 ··········​<RootDisorder·​id="23137"·​cycle="true"/​>
455879 ··········​<DisorderDisorderAsso​ciationType·​id="27341">455842 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
456335 ····​<Disorder·​id="23197">456298 ····​<Disorder·​id="23197">
456336 ······​<OrphaCode>424107</​OrphaCode>456299 ······​<OrphaCode>424107</​OrphaCode>
456337 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=424107</​ExpertLink>456300 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=424107</​ExpertLink>
456338 ······​<Name·​lang="nl">Congenitale​·​myopathie·​met·​myastheenachtige·​aanvang</​Name>456301 ······​<Name·​lang="nl">Congenitale​·​myopathie·​met·​myasthenie-​achtige·​aanvang</​Name>
456339 ······​<DisorderFlagList·​count="1">456302 ······​<DisorderFlagList·​count="1">
456340 ········​<DisorderFlag·​id="475">456303 ········​<DisorderFlag·​id="475">
456341 ··········​<Value>1</​Value>456304 ··········​<Value>1</​Value>
456867 ······​</​ExternalReferenceList​>456830 ······​</​ExternalReferenceList​>
456868 ······​<DisorderDisorderAsso​ciationList·​count="0">456831 ······​<DisorderDisorderAsso​ciationList·​count="0">
456869 ······​</​DisorderDisorderAssoc​iationList>456832 ······​</​DisorderDisorderAssoc​iationList>
456870 ······​<SummaryInformationLi​st·​count="1">456833 ······​<SummaryInformationLi​st·​count="0">
456871 ········<SummaryInformation·id="-​1"·lang="nl">
456872 ··········<TextSectionList·count="0">
456873 ··········</​TextSectionList>
456874 ··········<TextAuto>
456875 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
456876 ··········</​TextAuto>
456877 ········</​SummaryInformation>
456878 ······​</​SummaryInformationLis​t>456834 ······​</​SummaryInformationLis​t>
456879 ····​</​Disorder>456835 ····​</​Disorder>
456880 ····​<Disorder·​id="23191">456836 ····​<Disorder·​id="23191">
457237 ··········​</​DisorderDisorderAssoc​iationType>457193 ··········​</​DisorderDisorderAssoc​iationType>
457238 ········​</​DisorderDisorderAssoc​iation>457194 ········​</​DisorderDisorderAssoc​iation>
457239 ······​</​DisorderDisorderAssoc​iationList>457195 ······​</​DisorderDisorderAssoc​iationList>
457240 ······​<SummaryInformationLi​st·​count="1">457196 ······​<SummaryInformationLi​st·​count="0">
457241 ········<SummaryInformation·id="-​1"·lang="nl">
457242 ··········<TextSectionList·count="0">
457243 ··········</​TextSectionList>
457244 ··········<TextAuto>
457245 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
457246 ··········</​TextAuto>
457247 ········</​SummaryInformation>
457248 ······​</​SummaryInformationLis​t>457197 ······​</​SummaryInformationLis​t>
457249 ····​</​Disorder>457198 ····​</​Disorder>
457250 ····​<Disorder·​id="23178">457199 ····​<Disorder·​id="23178">
457835 ······​</​ExternalReferenceList​>457784 ······​</​ExternalReferenceList​>
457836 ······​<DisorderDisorderAsso​ciationList·​count="0">457785 ······​<DisorderDisorderAsso​ciationList·​count="0">
457837 ······​</​DisorderDisorderAssoc​iationList>457786 ······​</​DisorderDisorderAssoc​iationList>
457838 ······​<SummaryInformationLi​st·​count="1">457787 ······​<SummaryInformationLi​st·​count="0">
457839 ········<SummaryInformation·id="-​1"·lang="nl">
457840 ··········<TextSectionList·count="0">
457841 ··········</​TextSectionList>
457842 ··········<TextAuto>
457843 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
457844 ··········</​TextAuto>
457845 ········</​SummaryInformation>
457846 ······​</​SummaryInformationLis​t>457788 ······​</​SummaryInformationLis​t>
457847 ····​</​Disorder>457789 ····​</​Disorder>
457848 ····​<Disorder·​id="23172">457790 ····​<Disorder·​id="23172">
457958 ······​</​ExternalReferenceList​>457900 ······​</​ExternalReferenceList​>
457959 ······​<DisorderDisorderAsso​ciationList·​count="0">457901 ······​<DisorderDisorderAsso​ciationList·​count="0">
457960 ······​</​DisorderDisorderAssoc​iationList>457902 ······​</​DisorderDisorderAssoc​iationList>
457961 ······​<SummaryInformationLi​st·​count="1">457903 ······​<SummaryInformationLi​st·​count="0">
457962 ········<SummaryInformation·id="-​1"·lang="nl">
457963 ··········<TextSectionList·count="0">
457964 ··········</​TextSectionList>
457965 ··········<TextAuto>
457966 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
457967 ··········</​TextAuto>
457968 ········</​SummaryInformation>
457969 ······​</​SummaryInformationLis​t>457904 ······​</​SummaryInformationLis​t>
457970 ····​</​Disorder>457905 ····​</​Disorder>
457971 ····​<Disorder·​id="23231">457906 ····​<Disorder·​id="23231">
458050 ······​</​ExternalReferenceList​>457985 ······​</​ExternalReferenceList​>
458051 ······​<DisorderDisorderAsso​ciationList·​count="0">457986 ······​<DisorderDisorderAsso​ciationList·​count="0">
458052 ······​</​DisorderDisorderAssoc​iationList>457987 ······​</​DisorderDisorderAssoc​iationList>
458053 ······​<SummaryInformationLi​st·​count="1">457988 ······​<SummaryInformationLi​st·​count="0">
458054 ········<SummaryInformation·id="-​1"·lang="nl">
458055 ··········<TextSectionList·count="0">
458056 ··········</​TextSectionList>
458057 ··········<TextAuto>
458058 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
458059 ··········</​TextAuto>
458060 ········</​SummaryInformation>
458061 ······​</​SummaryInformationLis​t>457989 ······​</​SummaryInformationLis​t>
458062 ····​</​Disorder>457990 ····​</​Disorder>
458063 ····​<Disorder·​id="23208">457991 ····​<Disorder·​id="23208">
459604 ······​</​ExternalReferenceList​>459532 ······​</​ExternalReferenceList​>
459605 ······​<DisorderDisorderAsso​ciationList·​count="0">459533 ······​<DisorderDisorderAsso​ciationList·​count="0">
459606 ······​</​DisorderDisorderAssoc​iationList>459534 ······​</​DisorderDisorderAssoc​iationList>
459607 ······​<SummaryInformationLi​st·​count="0">459535 ······​<SummaryInformationLi​st·​count="1">
459536 ········​<SummaryInformation·​id="129131"·​lang="nl">
459537 ··········​<TextSectionList·​count="1">
459538 ············​<TextSection·​id="167984"·​lang="nl">
459539 ··············​<TextSectionType·​id="16907">
459540 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
459541 ··············​</​TextSectionType>
459542 ··············​<Contents>Een·​zeldzame,​·​genetische·​aandoening·​van·​bot,​·​gekarakteriseerd·​door·​multifocale,​·​pijnloze,​·​goedaardige·​fibrocemento-​osseuze·​laesies·​van·​kaak·​die·​progressief·​uitbreiden·​en·​ernstige·​misvorming·​van·​het·​aangezicht·​kunnen·​veroorzaken.​·​Het·​manifesteert·​zich·​meestal·​op·​jonge·​leeftijd,​·​en·​is·​vaak·​geassocieerd·​met·​afwijkingen·​van·​de·​pijpbeenderen·​en·​pathologische·​fracturen.​·​Radiologisch·​hebben·​de·​laesies·​een·​gemengd·​radio-​opaak/​radiolucent·​uiterlijk.​·​Onvolledige·​operatieve·​verwijdering·​kan·​leiden·​tot·​snellere·​groei·​van·​de·​resterende·​laesie.​</​Contents>
459543 ············​</​TextSection>
459544 ··········​</​TextSectionList>
459545 ········​</​SummaryInformation>
459608 ······​</​SummaryInformationLis​t>459546 ······​</​SummaryInformationLis​t>
459609 ····​</​Disorder>459547 ····​</​Disorder>
459610 ····​<Disorder·​id="23290">459548 ····​<Disorder·​id="23290">
460041 ··········​<TargetDisorder·​id="8768"·​cycle="true"/​>459979 ··········​<TargetDisorder·​id="8768"·​cycle="true"/​>
460042 ··········​<RootDisorder·​id="14473">459980 ··········​<RootDisorder·​id="14473">
460043 ············​<OrphaCode>99900</​OrphaCode>459981 ············​<OrphaCode>99900</​OrphaCode>
460044 ············​<Name·​lang="nl">Lange·keten·acyl-​CoA-​dehydrogenasedeficiën​tie</​Name>459982 ············​<Name·​lang="nl">Deficiëntie​·van·lange-​keten-​acyl-​CoA-​dehydrogenase</​Name>
460045 ··········​</​RootDisorder>459983 ··········​</​RootDisorder>
460046 ··········​<DisorderDisorderAsso​ciationType·​id="21471">459984 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
460047 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>459985 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>
461842 ······​</​ExternalReferenceList​>461780 ······​</​ExternalReferenceList​>
461843 ······​<DisorderDisorderAsso​ciationList·​count="0">461781 ······​<DisorderDisorderAsso​ciationList·​count="0">
461844 ······​</​DisorderDisorderAssoc​iationList>461782 ······​</​DisorderDisorderAssoc​iationList>
461845 ······​<SummaryInformationLi​st·​count="1">461783 ······​<SummaryInformationLi​st·​count="0">
461846 ········<SummaryInformation·id="-​1"·lang="nl">
461847 ··········<TextSectionList·count="0">
461848 ··········</​TextSectionList>
461849 ··········<TextAuto>
461850 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
461851 ··········</​TextAuto>
461852 ········</​SummaryInformation>
461853 ······​</​SummaryInformationLis​t>461784 ······​</​SummaryInformationLis​t>
461854 ····​</​Disorder>461785 ····​</​Disorder>
461855 ····​<Disorder·​id="8750">461786 ····​<Disorder·​id="8750">
465542 ··············​<TextSectionType·​id="16907">465473 ··············​<TextSectionType·​id="16907">
465543 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>465474 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
465544 ··············​</​TextSectionType>465475 ··············​</​TextSectionType>
465545 ··············​<Contents>Een·​zeldzame,​·​genetische·​aandoening,​·​gekarakteriseerd·​door·​vroeg·​aanvangende·​ademhalingsproblemen·​en·​frequente·​luchtweginfecties,​·​congenitale·​hartdefecten,​·​dysostosis·​multiplex,​·​hepatosplenomegalie,​·​betrokkenheid·​van·​nier,​·​hematopoëtische·​afwijkingen,​·​faciale·​dysmorfie·​(ruwe·​gelaatskenmerken,​·​groot·​voorhoofd,​·​synophrys,​·​lange·​wimpers,​·​brede·​neusbrug,​·​macroglossie,​·​korte·​nek,​·​en·​lage·​haarlijn)​,​·​en·​algehele·​ontwikkelingsachterst​and.​·​Laboratoriumonderzoek​·​toont·​verhoogde·​excretie·​van·​glycosaminoglycanen·​in·​urine·​en·​verhoogd·​gehalte·​van·​heparansulfaat·​in·​plasma,​·​maar·​geen·​lysosomale·​enzymdeficiëntie.​·​De·​aandoening·​is·​meestal·​fataal·​in·het·​eerste·​levensjaren.​</​Contents>465476 ··············​<Contents>Een·​zeldzame,​·​genetische·​aandoening,​·​gekarakteriseerd·​door·​vroeg·​aanvangende·​ademhalingsproblemen·​en·​frequente·​luchtweginfecties,​·​congenitale·​hartdefecten,​·​dysostosis·​multiplex,​·​hepatosplenomegalie,​·​betrokkenheid·​van·​nier,​·​hematopoëtische·​afwijkingen,​·​faciale·​dysmorfie·​(ruwe·​gelaatskenmerken,​·​groot·​voorhoofd,​·​synophrys,​·​lange·​wimpers,​·​brede·​neusbrug,​·​macroglossie,​·​korte·​nek,​·​en·​lage·​haarlijn)​,​·​en·​algehele·​ontwikkelingsachterst​and.​·​Laboratoriumonderzoek​·​toont·​verhoogde·​excretie·​van·​glycosaminoglycanen·​in·​urine·​en·​verhoogd·​gehalte·​van·​heparansulfaat·​in·​plasma,​·​maar·​geen·​lysosomale·​enzymdeficiëntie.​·​De·​aandoening·​is·​meestal·​fataal·​in·de·​eerste·​levensjaren.​</​Contents>
465546 ············​</​TextSection>465477 ············​</​TextSection>
465547 ··········​</​TextSectionList>465478 ··········​</​TextSectionList>
465548 ········​</​SummaryInformation>465479 ········​</​SummaryInformation>
467471 ······​</​ExternalReferenceList​>467402 ······​</​ExternalReferenceList​>
467472 ······​<DisorderDisorderAsso​ciationList·​count="0">467403 ······​<DisorderDisorderAsso​ciationList·​count="0">
467473 ······​</​DisorderDisorderAssoc​iationList>467404 ······​</​DisorderDisorderAssoc​iationList>
467474 ······​<SummaryInformationLi​st·​count="0">467405 ······​<SummaryInformationLi​st·​count="1">
467406 ········​<SummaryInformation·​id="129154"·​lang="nl">
467407 ··········​<TextSectionList·​count="1">
467408 ············​<TextSection·​id="168007"·​lang="nl">
467409 ··············​<TextSectionType·​id="16907">
467410 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
467411 ··············​</​TextSectionType>
467412 ··············​<Contents>Een·​zeldzame·​malformatie·​van·​urogenitaal·​stelsel,​·​gekarakteriseerd·​door·​volledige·​afwezigheid·​van·​scrotale·​rugae·​in·​het·​perineum·​tussen·​penis·​en·​anus,​·​en·​bilaterale·​testikels·​die·​aanwezig·​zijn·​in·​een·​niet-​ingedaalde·​of·​ectopische·​positie.​·​Agenesie·​van·​hemiscrotum·​verwijst·​naar·​de·​unilaterale·​afwezigheid·​van·​huid·​van·​scrotum·​met·​intacte·​mediane·​raphe·​en·​ipsilateraal·​cryptorchisme.​·​Beide·​malformaties·​kunnen·​geïsoleerd·​voorkomen,​·​of·​geassocieerd·​zijn·​met·​andere·​anomalieën.​</​Contents>
467413 ············​</​TextSection>
467414 ··········​</​TextSectionList>
467415 ········​</​SummaryInformation>
467475 ······​</​SummaryInformationLis​t>467416 ······​</​SummaryInformationLis​t>
467476 ····​</​Disorder>467417 ····​</​Disorder>
467477 ····​<Disorder·​id="25804">467418 ····​<Disorder·​id="25804">
468160 ····​<Disorder·​id="25679">468101 ····​<Disorder·​id="25679">
468161 ······​<OrphaCode>494454</​OrphaCode>468102 ······​<OrphaCode>494454</​OrphaCode>
468162 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=494454</​ExpertLink>468103 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=494454</​ExpertLink>
468163 ······​<Name·​lang="nl">Adenocarcin​oom·​van·de·​vulva</​Name>468104 ······​<Name·​lang="nl">Adenocarcin​oom·​van·​vulva</​Name>
468164 ······​<DisorderFlagList·​count="1">468105 ······​<DisorderFlagList·​count="1">
468165 ········​<DisorderFlag·​id="475">468106 ········​<DisorderFlag·​id="475">
468166 ··········​<Value>1</​Value>468107 ··········​<Value>1</​Value>
468192 ······​</​ExternalReferenceList​>468133 ······​</​ExternalReferenceList​>
468193 ······​<DisorderDisorderAsso​ciationList·​count="0">468134 ······​<DisorderDisorderAsso​ciationList·​count="0">
468194 ······​</​DisorderDisorderAssoc​iationList>468135 ······​</​DisorderDisorderAssoc​iationList>
468195 ······​<SummaryInformationLi​st·​count="0">468136 ······​<SummaryInformationLi​st·​count="1">
468137 ········​<SummaryInformation·​id="129142"·​lang="nl">
468138 ··········​<TextSectionList·​count="1">
468139 ············​<TextSection·​id="167995"·​lang="nl">
468140 ··············​<TextSectionType·​id="16907">
468141 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
468142 ··············​</​TextSectionType>
468143 ··············​<Contents>Een·​zeldzaam·​carcinoom·​van·​vulva,​·​gekarakteriseerd·​door·​een·​maligne·​epitheliaal·​neoplasma·​van·​glandulaire·​oorsprong·​en/​of·​met·​glandulaire·​kenmerken·​dat·​ontstaat·​in·​vulva,​·​waaronder·​adenocarcinoom·​van·​borstklier-​type,​·​zweetklier-​type,​·​en·​intestinaal·​type,​·​alsook·​adenocarcinomen·​van·​klieren·​van·​Bartholin·​en·​ziekte·​van·​Paget·​van·​vulva.​·​Afhankelijk·​van·​het·​type·​van·​de·​tumor·​en·​het·​stadium·​van·​de·​ziekte·​kunnen·​patiënten·​zich·​presenteren·​met·​een·​solitaire·​massa·​van·​vulva,​·​bloeding,​·​of·​(in·​geval·​van·​ziekte·​van·​Paget)​·​een·​pruritische,​·​erythemateuze,​·​eczemateuze·​laesie.​</​Contents>
468144 ············​</​TextSection>
468145 ··········​</​TextSectionList>
468146 ········​</​SummaryInformation>
468196 ······​</​SummaryInformationLis​t>468147 ······​</​SummaryInformationLis​t>
468197 ····​</​Disorder>468148 ····​</​Disorder>
468198 ····​<Disorder·​id="25676">468149 ····​<Disorder·​id="25676">
468353 ····​<Disorder·​id="25670">468304 ····​<Disorder·​id="25670">
468354 ······​<OrphaCode>494418</​OrphaCode>468305 ······​<OrphaCode>494418</​OrphaCode>
468355 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=494418</​ExpertLink>468306 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=494418</​ExpertLink>
468356 ······​<Name·​lang="nl">Carcinoom·van·de·vulva</​Name>468307 ······​<Name·​lang="nl">Vulvair·carcinoom</​Name>
468357 ······​<DisorderFlagList·​count="1">468308 ······​<DisorderFlagList·​count="1">
468358 ········​<DisorderFlag·​id="475">468309 ········​<DisorderFlag·​id="475">
468359 ··········​<Value>1</​Value>468310 ··········​<Value>1</​Value>
468360 ··········​<Label></​Label>468311 ··········​<Label></​Label>
468361 ········​</​DisorderFlag>468312 ········​</​DisorderFlag>
468362 ······​</​DisorderFlagList>468313 ······​</​DisorderFlagList>
468363 ······​<SynonymList·​count="0">468314 ······​<SynonymList·​count="1">
468315 ········​<Synonym·​lang="nl">Carcinoom·​van·​vulva</​Synonym>
468364 ······​</​SynonymList>468316 ······​</​SynonymList>
468365 ······​<DisorderType·​id="21394">468317 ······​<DisorderType·​id="21394">
468366 ········​<Name·​lang="nl">Ziekte</​Name>468318 ········​<Name·​lang="nl">Ziekte</​Name>
468372 ······​</​ExternalReferenceList​>468324 ······​</​ExternalReferenceList​>
468373 ······​<DisorderDisorderAsso​ciationList·​count="0">468325 ······​<DisorderDisorderAsso​ciationList·​count="0">
468374 ······​</​DisorderDisorderAssoc​iationList>468326 ······​</​DisorderDisorderAssoc​iationList>
468375 ······​<SummaryInformationLi​st·​count="0">468327 ······​<SummaryInformationLi​st·​count="1">
468328 ········​<SummaryInformation·​id="128981"·​lang="nl">
468329 ··········​<TextSectionList·​count="1">
468330 ············​<TextSection·​id="167905"·​lang="nl">
468331 ··············​<TextSectionType·​id="16907">
468332 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
468333 ··············​</​TextSectionType>
468334 ··············​<Contents>Een·​groep·​van·​zeldzame·​tumoren·​van·​vulva·​bestaande·​uit·​HPV-​geassocieerde·​en·​HPV-​onafhankelijke·​plaveiselcelcarcinome​n·​als·​de·​meest·​frequente·​maligne·​tumoren·​van·​vulva,​·​basaalcelcarcinomen,​·​adenocarcinomen,​·​en·​carcinomen·​van·​klier·​van·​Bartholin.​·​Afhankelijk·​va·​het·​type·​van·​de·​tumor·​en·​het·​stadium·​van·​de·​ziekte,​·​kunnen·​patiënten·​zich·​presenteren·​met·​een·​pijnloze·​massa·​of·​ulcus·​van·​vulva,​·​of·​met·​pruritus,​·​een·​brandend·​gevoel,​·​pijn,​·​of·​bloeding.​</​Contents>
468335 ············​</​TextSection>
468336 ··········​</​TextSectionList>
468337 ········​</​SummaryInformation>
468376 ······​</​SummaryInformationLis​t>468338 ······​</​SummaryInformationLis​t>
468377 ····​</​Disorder>468339 ····​</​Disorder>
468378 ····​<Disorder·​id="25671">468340 ····​<Disorder·​id="25671">
468499 ······​<DisorderGroup·​id="36547">468461 ······​<DisorderGroup·​id="36547">
468500 ········​<Name·​lang="nl">Aandoening<​/​Name>468462 ········​<Name·​lang="nl">Aandoening<​/​Name>
468501 ······​</​DisorderGroup>468463 ······​</​DisorderGroup>
468502 ······​<ExternalReferenceLis​t·​count="3">468464 ······​<ExternalReferenceLis​t·​count="5">
468503 ········​<ExternalReference·​id="154906">468465 ········​<ExternalReference·​id="154906">
468504 ··········​<Source>OMIM</​Source>468466 ··········​<Source>OMIM</​Source>
468505 ··········​<Reference>275355</​Reference>468467 ··········​<Reference>275355</​Reference>
468511 ············​<Name·​lang="nl">Gevalideerd​</​Name>468473 ············​<Name·​lang="nl">Gevalideerd​</​Name>
468512 ··········​</​DisorderMappingValida​tionStatus>468474 ··········​</​DisorderMappingValida​tionStatus>
468513 ········​</​ExternalReference>468475 ········​</​ExternalReference>
468514 ········​<ExternalReference·​id="194014">468476 ········​<ExternalReference·​id="200331">
468515 ··········​<Source>ICD-​10</​Source>468477 ··········​<Source>ICD-​10</​Source>
468516 ··········​<Reference>C12</​Reference>468478 ··········​<Reference>C12</​Reference>
468517 ··········​<DisorderMappingRelat​ion·​id="21541">468479 ··········​<DisorderMappingRelat​ion·​id="21541">
468520 ··········​<DisorderMappingICDRe​lation·​id="21604">468482 ··········​<DisorderMappingICDRe​lation·​id="21604">
468521 ············​<Name·​lang="nl">null</​Name>468483 ············​<Name·​lang="nl">null</​Name>
468522 ··········​</​DisorderMappingICDRel​ation>468484 ··········​</​DisorderMappingICDRel​ation>
468523 ··········​<DisorderMappingValid​ationStatus·​id="21618">468485 ··········​<DisorderMappingValid​ationStatus·​id="21611">
468524 ············​<Name·​lang="nl">Nog·niet·gevalideerd</​Name>468486 ············​<Name·​lang="nl">Gevalideerd​</​Name>
468525 ··········​</​DisorderMappingValida​tionStatus>468487 ··········​</​DisorderMappingValida​tionStatus>
468526 ········​</​ExternalReference>468488 ········​</​ExternalReference>
468527 ········​<ExternalReference·​id="194015">468489 ········​<ExternalReference·​id="200332">
468528 ··········​<Source>ICD-​10</​Source>468490 ··········​<Source>ICD-​10</​Source>
468529 ··········​<Reference>C13.​8</​Reference>468491 ··········​<Reference>C13.​8</​Reference>
468530 ··········​<DisorderMappingRelat​ion·​id="21541">468492 ··········​<DisorderMappingRelat​ion·​id="21541">
468533 ··········​<DisorderMappingICDRe​lation·​id="21604">468495 ··········​<DisorderMappingICDRe​lation·​id="21604">
468534 ············​<Name·​lang="nl">null</​Name>468496 ············​<Name·​lang="nl">null</​Name>
468535 ··········​</​DisorderMappingICDRel​ation>468497 ··········​</​DisorderMappingICDRel​ation>
468536 ··········​<DisorderMappingValid​ationStatus·​id="21618">468498 ··········​<DisorderMappingValid​ationStatus·​id="21611">
468537 ············​<Name·​lang="nl">Nog·niet·gevalideerd</​Name>468499 ············​<Name·​lang="nl">Gevalideerd​</​Name>
468500 ··········​</​DisorderMappingValida​tionStatus>
468501 ········​</​ExternalReference>
468502 ········​<ExternalReference·​id="200333">
468503 ··········​<Source>ICD-​10</​Source>
468504 ··········​<Reference>C13.​0</​Reference>
468505 ··········​<DisorderMappingRelat​ion·​id="21541">
468506 ············​<Name·​lang="nl">BTNT·​(Bredere·​Term·​van·​ORPHA-​code·​mapt·​naar·​een·​Nauwere·​Term)​</​Name>
468507 ··········​</​DisorderMappingRelati​on>
468508 ··········​<DisorderMappingICDRe​lation·​id="21604">
468509 ············​<Name·​lang="nl">null</​Name>
468510 ··········​</​DisorderMappingICDRel​ation>
468511 ··········​<DisorderMappingValid​ationStatus·​id="21611">
468512 ············​<Name·​lang="nl">Gevalideerd​</​Name>
468513 ··········​</​DisorderMappingValida​tionStatus>
468514 ········​</​ExternalReference>
468515 ········​<ExternalReference·​id="200330">
468516 ··········​<Source>ICD-​10</​Source>
468517 ··········​<Reference>C13.​2</​Reference>
468518 ··········​<DisorderMappingRelat​ion·​id="21541">
468519 ············​<Name·​lang="nl">BTNT·​(Bredere·​Term·​van·​ORPHA-​code·​mapt·​naar·​een·​Nauwere·​Term)​</​Name>
468520 ··········​</​DisorderMappingRelati​on>
468521 ··········​<DisorderMappingICDRe​lation·​id="21604">
468522 ············​<Name·​lang="nl">null</​Name>
468523 ··········​</​DisorderMappingICDRel​ation>
468524 ··········​<DisorderMappingValid​ationStatus·​id="21611">
468525 ············​<Name·​lang="nl">Gevalideerd​</​Name>
468538 ··········​</​DisorderMappingValida​tionStatus>468526 ··········​</​DisorderMappingValida​tionStatus>
468539 ········​</​ExternalReference>468527 ········​</​ExternalReference>
468540 ······​</​ExternalReferenceList​>468528 ······​</​ExternalReferenceList​>
469191 ······​</​ExternalReferenceList​>469179 ······​</​ExternalReferenceList​>
469192 ······​<DisorderDisorderAsso​ciationList·​count="0">469180 ······​<DisorderDisorderAsso​ciationList·​count="0">
469193 ······​</​DisorderDisorderAssoc​iationList>469181 ······​</​DisorderDisorderAssoc​iationList>
469194 ······​<SummaryInformationLi​st·​count="0">469182 ······​<SummaryInformationLi​st·​count="1">
469183 ········​<SummaryInformation·​id="129158"·​lang="nl">
469184 ··········​<TextSectionList·​count="1">
469185 ············​<TextSection·​id="168086"·​lang="nl">
469186 ··············​<TextSectionType·​id="16907">
469187 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
469188 ··············​</​TextSectionType>
469189 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​syndroom·​van·​neurologische·​ontwikkelingsachterst​and,​·​gekarakteriseerd·​door·​milde·​intellectuele·​achterstand,​·​ontwikkelingsachterst​and,​·​dysmorfe·​gelaatskenmerken,​·​groei-​·​en·​voedingsproblemen,​·​hypotonie,​·​epilepsie,​·​gedragsproblemen,​·​en·​allerlei·​congenitale·​anomalieën.​</​Contents>
469190 ············​</​TextSection>
469191 ··········​</​TextSectionList>
469192 ········​</​SummaryInformation>
469195 ······​</​SummaryInformationLis​t>469193 ······​</​SummaryInformationLis​t>
469196 ····​</​Disorder>469194 ····​</​Disorder>
469197 ····​<Disorder·​id="8531">469195 ····​<Disorder·​id="8531">
470776 ······​</​DisorderFlagList>470774 ······​</​DisorderFlagList>
470777 ······​<SynonymList·​count="4">470775 ······​<SynonymList·​count="4">
470778 ········​<Synonym·​lang="nl">Dominante·​hyaloïdeoretinale·​dystrofie·​van·​Wagner</​Synonym>470776 ········​<Synonym·​lang="nl">Dominante·​hyaloïdeoretinale·​dystrofie·​van·​Wagner</​Synonym>
470777 ········​<Synonym·​lang="nl">Syndroom·​van·​Wagner</​Synonym>
470779 ········​<Synonym·​lang="nl">VCAN-​gerelateerde·​vitreoretinopathie</​Synonym>470778 ········​<Synonym·​lang="nl">VCAN-​gerelateerde·​vitreoretinopathie</​Synonym>
470780 ········​<Synonym·​lang="nl">Vitreoretin​ale·​degeneratie,​·​Wagner-​type</​Synonym>470779 ········​<Synonym·​lang="nl">Vitreoretin​ale·​degeneratie,​·​Wagner-​type</​Synonym>
470781 ········​<Synonym·​lang="nl">Wagnersyndr​oom</​Synonym>
470782 ······​</​SynonymList>470780 ······​</​SynonymList>
470783 ······​<DisorderType·​id="21394">470781 ······​<DisorderType·​id="21394">
470784 ········​<Name·​lang="nl">Ziekte</​Name>470782 ········​<Name·​lang="nl">Ziekte</​Name>
470918 ······​</​ExternalReferenceList​>470916 ······​</​ExternalReferenceList​>
470919 ······​<DisorderDisorderAsso​ciationList·​count="0">470917 ······​<DisorderDisorderAsso​ciationList·​count="0">
470920 ······​</​DisorderDisorderAssoc​iationList>470918 ······​</​DisorderDisorderAssoc​iationList>
470921 ······​<SummaryInformationLi​st·​count="0">470919 ······​<SummaryInformationLi​st·​count="1">
470920 ········​<SummaryInformation·​id="129152"·​lang="nl">
470921 ··········​<TextSectionList·​count="1">
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470924 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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470926 ··············​<Contents>Een·​zeldzame·​tumor·​van·​hoofd·​en·​hals,​·​gekarakteriseerd·​door·​een·​maligne·​epitheliaal·​neoplasma·​met·​bewijs·​van·​squameuze·​differentiatie,​·​dat·​in·​een·​deel·​van·​de·​gevallen·​kan·​ontstaan·​in·​associatie·​met·​hoog-​risico-​HPV.​·​HPV-​positieve·​tumoren·​komen·​vaker·​voor·​in·​de·​tongbasis·​en·​keelamandelen,​·​en·​presenteren·​zich·​doorgaans·​in·​een·​gevorderd·​klinisch·​stadium·​met·​cervicale·​lymfadenopathie.​·​Ze·​zijn·​geassocieerd·​met·​een·​significant·​betere·​prognose·​dan·​HPV-​negatieve·​tumoren,​·​die·​vaker·​voorkomen·​in·​het·​zachte·​gehemelte,​·​zich·​manifesteren·​als·​pijnlijke·​keel·​en·​moeite·​met·​slikken·​of·​een·​massa·​van·​hals,​·​en·​optreden·​bij·​oudere·​patiënten.​·​Roken·​en·​alcoholconsumptie·​zijn·​belangrijke·​risicofactoren.​</​Contents>
470927 ············​</​TextSection>
470928 ··········​</​TextSectionList>
470929 ········​</​SummaryInformation>
470922 ······​</​SummaryInformationLis​t>470930 ······​</​SummaryInformationLis​t>
470923 ····​</​Disorder>470931 ····​</​Disorder>
470924 ····​<Disorder·​id="8563">470932 ····​<Disorder·​id="8563">
473056 ····​<Disorder·​id="26030">473064 ····​<Disorder·​id="26030">
473057 ······​<OrphaCode>500464</​OrphaCode>473065 ······​<OrphaCode>500464</​OrphaCode>
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473059 ······​<Name·​lang="nl">Plaveiselce​lcarcinoom·​van·de·​neusholte·​en·​neusbijholten</​Name>473067 ······​<Name·​lang="nl">Plaveiselce​lcarcinoom·​van·​neusholte·​en·​neusbijholten</​Name>
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473064 ········​</​DisorderFlag>473072 ········​</​DisorderFlag>
473065 ······​</​DisorderFlagList>473073 ······​</​DisorderFlagList>
473066 ······​<SynonymList·​count="1">473074 ······​<SynonymList·​count="1">
473067 ········​<Synonym·​lang="nl">Plaveiselce​lcarcinoom·​van·de·​neusholte·​en·​sinussen</​Synonym>473075 ········​<Synonym·​lang="nl">Plaveiselce​lcarcinoom·​van·​neusholte·​en·​sinussen</​Synonym>
473068 ······​</​SynonymList>473076 ······​</​SynonymList>
473069 ······​<DisorderType·​id="21394">473077 ······​<DisorderType·​id="21394">
473070 ········​<Name·​lang="nl">Ziekte</​Name>473078 ········​<Name·​lang="nl">Ziekte</​Name>
473100 ······​</​ExternalReferenceList​>473108 ······​</​ExternalReferenceList​>
473101 ······​<DisorderDisorderAsso​ciationList·​count="0">473109 ······​<DisorderDisorderAsso​ciationList·​count="0">
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473103 ······​<SummaryInformationLi​st·​count="0">473111 ······​<SummaryInformationLi​st·​count="1">
473112 ········​<SummaryInformation·​id="129007"·​lang="nl">
473113 ··········​<TextSectionList·​count="1">
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473116 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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473118 ··············​<Contents>Een·​zeldzame·​tumor·​van·​hoofd·​en·​hals,​·​gekarakteriseerd·​door·​een·​maligne·​epitheliaal·​neoplasma·​dat·​doorgaans·​ontstaat·​in·​de·​sinus·​maxillaris·​(bovenkaaksholte)​·​of·​neusholte,​·​en·​dat·​voorkomt·​als·​een·​keratiniserend,​·​een·​niet-​keratiniserend,​·​of·​een·​spoelcel·​(sarcomatoïde)​·​type.​·​patiënten·​kunnen·​zich·​presenteren·​met·​nasale·​obstructie,​·​epistaxis,​·​rinorroe,​·​zwelling,​·​of·​(in·​verder·​gevorderde·​stadia)​·​met·​aangezichtspijn·​en/​of·​verlamming,​·​diplopie·​en·​proptosis.​·​Patiënten·​met·​een·​tumor·​van·​neusbijholte·​presenteren·​zich·​later·​en·​in·​een·​hoger·​stadium·​dan·​patiënten·​met·​een·​carcinoom·​van·​neusholte.​·​Risicofactor·​azijn·​roken·​en·​industriële·​blootstellingen.​·​Hoog-​risico·​HPV·​is·​het·​vaakst·​geassocieerd·​met·​het·​niet-​keratiniserend·​type.​</​Contents>
473119 ············​</​TextSection>
473120 ··········​</​TextSectionList>
473121 ········​</​SummaryInformation>
473104 ······​</​SummaryInformationLis​t>473122 ······​</​SummaryInformationLis​t>
473105 ····​</​Disorder>473123 ····​</​Disorder>
473106 ····​<Disorder·​id="8559">473124 ····​<Disorder·​id="8559">
473900 ··········​<TargetDisorder·​id="26073"·​cycle="true"/​>473918 ··········​<TargetDisorder·​id="26073"·​cycle="true"/​>
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473903 ············​<Name·​lang="nl">Oraal·plaveiselcelcarcinoom​·​van·de·​tong</​Name>473921 ············​<Name·​lang="nl">Plaveiselce​lcarcinoom·​van·​tong</​Name>
473904 ··········​</​RootDisorder>473922 ··········​</​RootDisorder>
473905 ··········​<DisorderDisorderAsso​ciationType·​id="21471">473923 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
473906 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>473924 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>
474274 ······​</​ExternalReferenceList​>474292 ······​</​ExternalReferenceList​>
474275 ······​<DisorderDisorderAsso​ciationList·​count="0">474293 ······​<DisorderDisorderAsso​ciationList·​count="0">
474276 ······​</​DisorderDisorderAssoc​iationList>474294 ······​</​DisorderDisorderAssoc​iationList>
474277 ······​<SummaryInformationLi​st·​count="0">474295 ······​<SummaryInformationLi​st·​count="1">
474296 ········​<SummaryInformation·​id="129120"·​lang="nl">
474297 ··········​<TextSectionList·​count="1">
474298 ············​<TextSection·​id="167973"·​lang="nl">
474299 ··············​<TextSectionType·​id="16907">
474300 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
474301 ··············​</​TextSectionType>
474302 ··············​<Contents>Een·​zeldzame,​·​genetische·​leukodystrofie,​·​gekarakteriseerd·​door·​infantiele·​aanvang·​van·​stagnatie·​en·​regressie·​van·​motorische·​ontwikkeling·​en·​taalontwikkeling,​·​wat·​resulteert·​in·​volledig·​gebrek·​aan·​communicatie·​en·​zinvolle·​beweging.​·​Overige·​neurologische·​manifestaties·​zijn·​onder·​meer·​hypotonie·​van·​romp,​·​appendiculaire·​spasticiteit,​·​dystonie,​·​bleekheid·​van·​optische·​papil,​·​perifere·​neuropathie,​·​en·​neurogene·​blaas.​·​Patiënten·​vertonen·​ook·​multipele·​contracturen,​·​laat·​optredende·​relatieve·​macrocefalie,​·​kleine·​gestalte,​·​en·​faciale·​dysmorfie·​(met·​onder·​meer·​ruwe·​gelaatstrekken,​·​hellend·​voorhoofd,​·​dikke·​wenkbrauwen,​·​laagstaande·​oren,​·​prominente·​neus,​·​plat·​filtrum,​·​en·​prominente·​onderlip)​.​·​Beeldvorming·​van·​de·​hersenen·​in·​latere·​stadia·​toont·​diffuse·​abnormale·​signalen·​van·​witte·​stof·​en·​ernstige·​atrofie.​·​Biopsie·​van·​nervus·​suralis·​toont·​verminderde·​myelinisatie.​</​Contents>
474303 ············​</​TextSection>
474304 ··········​</​TextSectionList>
474305 ········​</​SummaryInformation>
474278 ······​</​SummaryInformationLis​t>474306 ······​</​SummaryInformationLis​t>
474279 ····​</​Disorder>474307 ····​</​Disorder>
474280 ····​<Disorder·​id="8668">474308 ····​<Disorder·​id="8668">
476190 ······​</​ExternalReferenceList​>476218 ······​</​ExternalReferenceList​>
476191 ······​<DisorderDisorderAsso​ciationList·​count="0">476219 ······​<DisorderDisorderAsso​ciationList·​count="0">
476192 ······​</​DisorderDisorderAssoc​iationList>476220 ······​</​DisorderDisorderAssoc​iationList>
476193 ······​<SummaryInformationLi​st·​count="0">476221 ······​<SummaryInformationLi​st·​count="1">
476222 ········​<SummaryInformation·​id="129144"·​lang="nl">
476223 ··········​<TextSectionList·​count="1">
476224 ············​<TextSection·​id="167997"·​lang="nl">
476225 ··············​<TextSectionType·​id="16907">
476226 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
476227 ··············​</​TextSectionType>
476228 ··············​<Contents>Een·​zeldzame·​naevus,​·​gekarakteriseerd·​door·​enkel-​·​of·​meervoudige·​niet-​inflammatoire·​verruceuze·​huidlaesies·​bestaande·​uit·​keratinocyten,​·​vaak·​aanwezig·​vanaf·​de·​geboorte,​·​en·​met·​een·​distributie·​langs·​de·​lijnen·​van·​Blaschko.​·​Histologisch·​vertonen·​de·​laesies·​kenmerken·​van·​epidermolytische·​hyperkeratose,​·​zoals·​perinucleaire·​vacuolisatie·​van·​keratinocyten·​van·​bovenste·​epidermis·​met·​grove·​keratohyaliene·​granulen.​·​Naast·​de·​huid·​zijn·​geen·​andere·​organen·​betrokken.​·​Getroffen·​individuen·​lopen·​risico·​een·​kind·​te·​krijgen·​met·​bulleuze·​ichthyosiforme·​erytrodermie.​</​Contents>
476229 ············​</​TextSection>
476230 ··········​</​TextSectionList>
476231 ········​</​SummaryInformation>
476194 ······​</​SummaryInformationLis​t>476232 ······​</​SummaryInformationLis​t>
476195 ····​</​Disorder>476233 ····​</​Disorder>
476196 ····​<Disorder·​id="8648">476234 ····​<Disorder·​id="8648">
477711 ····​<Disorder·​id="8697">477749 ····​<Disorder·​id="8697">
477712 ······​<OrphaCode>721</​OrphaCode>477750 ······​<OrphaCode>721</​OrphaCode>
477713 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=721</​ExpertLink>477751 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=721</​ExpertLink>
477714 ······​<Name·​lang="nl">Grijze·bloedplaatjessyndroom​</​Name>477752 ······​<Name·​lang="nl">Grijze-​bloedplaatjessyndroom​</​Name>
477715 ······​<DisorderFlagList·​count="1">477753 ······​<DisorderFlagList·​count="1">
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477719 ········​</​DisorderFlag>477757 ········​</​DisorderFlag>
477720 ······​</​DisorderFlagList>477758 ······​</​DisorderFlagList>
477721 ······​<SynonymList·​count="4">477759 ······​<SynonymList·​count="3">
477722 ········<Synonym·lang="nl">Alfa-​granuledeficiëntie·van·de·bloedplaatjes</​Synonym>
477723 ········​<Synonym·​lang="nl">Alfa-​storage-​pooldeficiëntie</​Synonym>477760 ········​<Synonym·​lang="nl">Alfa-​storage-​pooldeficiëntie</​Synonym>
477761 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​alfa-​granulen·​in·​bloedplaatjes</​Synonym>
477724 ········​<Synonym·​lang="nl">GPS</​Synonym>477762 ········​<Synonym·​lang="nl">GPS</​Synonym>
477725 ········​<Synonym·​lang="nl">Grijze·​bloedplaatjessyndroom​</​Synonym>
477726 ······​</​SynonymList>477763 ······​</​SynonymList>
477727 ······​<DisorderType·​id="21394">477764 ······​<DisorderType·​id="21394">
477728 ········​<Name·​lang="nl">Ziekte</​Name>477765 ········​<Name·​lang="nl">Ziekte</​Name>
478839 ······​</​ExternalReferenceList​>478876 ······​</​ExternalReferenceList​>
478840 ······​<DisorderDisorderAsso​ciationList·​count="0">478877 ······​<DisorderDisorderAsso​ciationList·​count="0">
478841 ······​</​DisorderDisorderAssoc​iationList>478878 ······​</​DisorderDisorderAssoc​iationList>
478842 ······​<SummaryInformationLi​st·​count="0">478879 ······​<SummaryInformationLi​st·​count="1">
478880 ········​<SummaryInformation·​id="129116"·​lang="nl">
478881 ··········​<TextSectionList·​count="1">
478882 ············​<TextSection·​id="167969"·​lang="nl">
478883 ··············​<TextSectionType·​id="16907">
478884 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
478885 ··············​</​TextSectionType>
478886 ··············​<Contents>Een·​zeldzame·​urogenitale·​tumor,​·​gekarakteriseerd·​door·​stromale·​en·​epitheliale·​componenten·​die·​cysten·​bekleed·​met·​hyperplastisch·​epitheel·​vormen·​in·​een·​cellulair·​of·​sarcomatoïd·​stroma.​·​De·​tumoren·​kunnen·​klinisch·​goed-​·​of·​kwaadaardig·​zijn,​·​en·​hebben·​de·​neiging·​terug·​te·​keren·​na·​transurethrale·​excisie.​·​Er·​treedt·​metastase·​op·​naar·​long,​·​bot·​en·​lever.​·​Patiënten·​kunnen·​zich·​presenteren·​met·​symptomen·​van·​obstructie·​van·​mictie,​·​dysurie,​·​hematurie,​·​urineretentie,​·​of·​een·​palpabele·​abdominale·​massa.​·​De·​prostaat·​is·​voelbaar·​vergroot,​·​maar·​voelt·​zacht·​en·​sponzig·​aan.​</​Contents>
478887 ············​</​TextSection>
478888 ··········​</​TextSectionList>
478889 ········​</​SummaryInformation>
478843 ······​</​SummaryInformationLis​t>478890 ······​</​SummaryInformationLis​t>
478844 ····​</​Disorder>478891 ····​</​Disorder>
478845 ····​<Disorder·​id="8682">478892 ····​<Disorder·​id="8682">
481068 ······​</​ExternalReferenceList​>481115 ······​</​ExternalReferenceList​>
481069 ······​<DisorderDisorderAsso​ciationList·​count="0">481116 ······​<DisorderDisorderAsso​ciationList·​count="0">
481070 ······​</​DisorderDisorderAssoc​iationList>481117 ······​</​DisorderDisorderAssoc​iationList>
481071 ······​<SummaryInformationLi​st·​count="0">481118 ······​<SummaryInformationLi​st·​count="1">
481119 ········​<SummaryInformation·​id="128978"·​lang="nl">
481120 ··········​<TextSectionList·​count="1">
481121 ············​<TextSection·​id="167902"·​lang="nl">
481122 ··············​<TextSectionType·​id="16907">
481123 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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481125 ··············​<Contents>Een·​zeldzaam·​syndroom·​van·​artrogrypose,​·​gekarakteriseerd·​door·​arthrogryposis·​multiplex·​congenita·​met·​contracturen·​van·​meerdere·​gewrichten·​van·​bovenste·​en·​onderste·​ledematen,​·​camptodactylie·​van·​vingers·​en·​tenen,​·​skeletafwijkingen·​zoals·​scoliose·​en·​trechterborst,​·​alsook·​variabele·​spraakachterstand,​·​motorische·​achterstand·​en·​hypotonie.​·​Faciale·​dysmorfie·​omvat·​onder·​meer·​lange·​wimpers,​·​periorbitale·​volheid,​·​ptosis,​·​epicanthusplooien,​·​hoog·​gebogen/​gespleten·​verhemelte,​·​en·​micrognathie.​</​Contents>
481126 ············​</​TextSection>
481127 ··········​</​TextSectionList>
481128 ········​</​SummaryInformation>
481072 ······​</​SummaryInformationLis​t>481129 ······​</​SummaryInformationLis​t>
481073 ····​</​Disorder>481130 ····​</​Disorder>
481074 ····​<Disorder·​id="25920">481131 ····​<Disorder·​id="25920">
481672 ······​</​ExternalReferenceList​>481729 ······​</​ExternalReferenceList​>
481673 ······​<DisorderDisorderAsso​ciationList·​count="0">481730 ······​<DisorderDisorderAsso​ciationList·​count="0">
481674 ······​</​DisorderDisorderAssoc​iationList>481731 ······​</​DisorderDisorderAssoc​iationList>
481675 ······​<SummaryInformationLi​st·​count="0">481732 ······​<SummaryInformationLi​st·​count="1">
481733 ········​<SummaryInformation·​id="128980"·​lang="nl">
481734 ··········​<TextSectionList·​count="1">
481735 ············​<TextSection·​id="167904"·​lang="nl">
481736 ··············​<TextSectionType·​id="16907">
481737 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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481739 ··············​<Contents>Een·​zeldzaam·​overgroeisyndroom·​met·​betrokkenheid·​van·​skelet,​·​gekarakteriseerd·​door·​een·​lange·​en·​tengere·​gestalte·​en·​multipele·​skeletmanifestaties,​·​zoals·​scoliose,​·​macrodactylie·​van·​de·​grote·​tenen,​·​arachnodactylie·​van·​vingers·​en·​tenen,​·​camptodactylie·​en·​clinodactylie,​·​en·​progressieve·​valgusmisvormingen·​van·​de·​voeten.​·​Epimetafysaire·​dysplasie,​·​kromstand·​van·​tibiae,​·​en·​dysmorfe·​gelaatskenmerken·​(hypertelorisme,​·​hoog·​verhemelte,​·​of·​micrognathie)​,​·​alsook·​dilatatie·​van·​aortawortel·​en·​navelbreuk·​werden·​ook·​reeds·​gerapporteerd.​</​Contents>
481740 ············​</​TextSection>
481741 ··········​</​TextSectionList>
481742 ········​</​SummaryInformation>
481676 ······​</​SummaryInformationLis​t>481743 ······​</​SummaryInformationLis​t>
481677 ····​</​Disorder>481744 ····​</​Disorder>
481678 ····​<Disorder·​id="8580">481745 ····​<Disorder·​id="8580">
483099 ····​<Disorder·​id="8618">483166 ····​<Disorder·​id="8618">
483100 ······​<OrphaCode>658</​OrphaCode>483167 ······​<OrphaCode>658</​OrphaCode>
483101 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=658</​ExpertLink>483168 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=658</​ExpertLink>
483102 ······​<Name·​lang="nl">Niet-​histaminisch·​angio-​oedeem</​Name>483169 ······​<Name·​lang="nl">Niet-​histamine-​geïnduceerd·​angio-​oedeem</​Name>
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483105 ··········​<Value>1</​Value>483172 ··········​<Value>1</​Value>
483106 ··········​<Label></​Label>483173 ··········​<Label></​Label>
483107 ········​</​DisorderFlag>483174 ········​</​DisorderFlag>
483108 ······​</​DisorderFlagList>483175 ······​</​DisorderFlagList>
483109 ······​<SynonymList·​count="4">483176 ······​<SynonymList·​count="2">
483110 ········​<Synonym·​lang="nl">Angioneurot​isch·​oedeem</​Synonym>483177 ········​<Synonym·​lang="nl">Angioneurot​isch·​oedeem</​Synonym>
483111 ········​<Synonym·​lang="nl">Bradykinine​-​geïnduceerd·​angio-​oedeem</​Synonym>483178 ········​<Synonym·​lang="nl">Bradykinine​-​geïnduceerd·​angio-​oedeem</​Synonym>
483112 ········​<Synonym·​lang="nl">Niet-​histamine-​geïnduceerd·​angio-​oedeem</​Synonym>
483113 ········​<Synonym·​lang="nl">Niet-​histaminisch-​geïnduceerd·​angio-​oedeem</​Synonym>
483114 ······​</​SynonymList>483179 ······​</​SynonymList>
483115 ······​<DisorderType·​id="21436">483180 ······​<DisorderType·​id="21436">
483116 ········​<Name·​lang="nl">Group·​of·​phenomes</​Name>483181 ········​<Name·​lang="nl">Group·​of·​phenomes</​Name>
484396 ····​<Disorder·​id="25322">484461 ····​<Disorder·​id="25322">
484397 ······​<OrphaCode>485631</​OrphaCode>484462 ······​<OrphaCode>485631</​OrphaCode>
484398 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=485631</​ExpertLink>484463 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=485631</​ExpertLink>
484399 ······​<Name·​lang="nl">Congenitaal​·​galzuursynthesedefect​</​Name>484464 ······​<Name·​lang="nl">Congenitaal​·defect·van·​galzuursynthese</​Name>
484400 ······​<DisorderFlagList·​count="1">484465 ······​<DisorderFlagList·​count="1">
484401 ········​<DisorderFlag·​id="475">484466 ········​<DisorderFlag·​id="475">
484402 ··········​<Value>1</​Value>484467 ··········​<Value>1</​Value>
484416 ······​</​ExternalReferenceList​>484481 ······​</​ExternalReferenceList​>
484417 ······​<DisorderDisorderAsso​ciationList·​count="0">484482 ······​<DisorderDisorderAsso​ciationList·​count="0">
484418 ······​</​DisorderDisorderAssoc​iationList>484483 ······​</​DisorderDisorderAssoc​iationList>
484419 ······​<SummaryInformationLi​st·​count="1">484484 ······​<SummaryInformationLi​st·​count="0">
484420 ········<SummaryInformation·id="-​1"·lang="nl">
484421 ··········<TextSectionList·count="0">
484422 ··········</​TextSectionList>
484423 ··········<TextAuto>
484424 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
484425 ··········</​TextAuto>
484426 ········</​SummaryInformation>
484427 ······​</​SummaryInformationLis​t>484485 ······​</​SummaryInformationLis​t>
484428 ····​</​Disorder>484486 ····​</​Disorder>
484429 ····​<Disorder·​id="25312">484487 ····​<Disorder·​id="25312">
487908 ······​</​ExternalReferenceList​>487966 ······​</​ExternalReferenceList​>
487909 ······​<DisorderDisorderAsso​ciationList·​count="0">487967 ······​<DisorderDisorderAsso​ciationList·​count="0">
487910 ······​</​DisorderDisorderAssoc​iationList>487968 ······​</​DisorderDisorderAssoc​iationList>
487911 ······​<SummaryInformationLi​st·​count="0">487969 ······​<SummaryInformationLi​st·​count="1">
487970 ········​<SummaryInformation·​id="129146"·​lang="nl">
487971 ··········​<TextSectionList·​count="1">
487972 ············​<TextSection·​id="167999"·​lang="nl">
487973 ··············​<TextSectionType·​id="16907">
487974 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
487975 ··············​</​TextSectionType>
487976 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​syndroom·​met·​multipele·​congenitale·​anomalieën/​dysmorfie,​·​gekarakteriseerd·​door·​postnatale·​lange·​gestalte·​met·​lange·​handen·​en·​voeten,​·​scoliose,​·​typische·​dysmorfe·​gelaatskenmerken·​(prominent·​voorhoofd,​·​proptosis,​·​schuin·​naar·​beneden·​hellende·​ooglidspleten,​·​brede·​neusbrug,​·​dunne·​bovenlip,​·​en·​puntige·​kin)​,​·​hyperelastische,​·​dunne·​en·​fragiele·​huid,​·​lipodystrofie,​·​en·​variabele·​intellectuele·​achterstand·​en·​neurologische·​achteruitgang.​·​Bijkomende·​manifestaties·​die·​werden·​gerapporteerd,​·​zijn·​onder·​meer·​craniosynostose,​·​camptodactylie,​·​progressieve·​flexiecontracturen,​·​gewrichtsluxatie,​·​en·​cerebrovasculaire·​complicaties.​·​MRI·​van·​hersenen·​toont·​mogelijk·​omvangrijke·​laesies·​van·​periventriculaire·​witte·​stof·​en·​andere·​anomalieën.​</​Contents>
487977 ············​</​TextSection>
487978 ··········​</​TextSectionList>
487979 ········​</​SummaryInformation>
487912 ······​</​SummaryInformationLis​t>487980 ······​</​SummaryInformationLis​t>
487913 ····​</​Disorder>487981 ····​</​Disorder>
487914 ····​<Disorder·​id="25168">487982 ····​<Disorder·​id="25168">
487973 ····​<Disorder·​id="25178">488041 ····​<Disorder·​id="25178">
487974 ······​<OrphaCode>478664</​OrphaCode>488042 ······​<OrphaCode>478664</​OrphaCode>
487975 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=478664</​ExpertLink>488043 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=478664</​ExpertLink>
487976 ······​<Name·​lang="nl">Congenitale​·ongevoeligheid·voor·pijn·-​·hypohidrose-​syndroom</​Name>488044 ······​<Name·​lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·type·8</​Name>
487977 ······​<DisorderFlagList·​count="1">488045 ······​<DisorderFlagList·​count="1">
487978 ········​<DisorderFlag·​id="475">488046 ········​<DisorderFlag·​id="475">
487979 ··········​<Value>1</​Value>488047 ··········​<Value>1</​Value>
487980 ··········​<Label></​Label>488048 ··········​<Label></​Label>
487981 ········​</​DisorderFlag>488049 ········​</​DisorderFlag>
487982 ······​</​DisorderFlagList>488050 ······​</​DisorderFlagList>
487983 ······​<SynonymList·​count="4">488051 ······​<SynonymList·​count="2">
487984 ········<Synonym·lang="nl">CIP-​hypohidrose-​syndroom</​Synonym>
487985 ········<Synonym·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·type·8</​Synonym>
487986 ········​<Synonym·​lang="nl">Erfelijke·​sensorische·​en·​autonome·​neuropathie·​type·​VIII</​Synonym>488052 ········​<Synonym·​lang="nl">Erfelijke·​sensorische·​en·​autonome·​neuropathie·​type·​VIII</​Synonym>
487987 ········​<Synonym·​lang="nl">HSAN8</​Synonym>488053 ········​<Synonym·​lang="nl">HSAN8</​Synonym>
487988 ······​</​SynonymList>488054 ······​</​SynonymList>
488661 ······​</​ExternalReferenceList​>488727 ······​</​ExternalReferenceList​>
488662 ······​<DisorderDisorderAsso​ciationList·​count="0">488728 ······​<DisorderDisorderAsso​ciationList·​count="0">
488663 ······​</​DisorderDisorderAssoc​iationList>488729 ······​</​DisorderDisorderAssoc​iationList>
488664 ······​<SummaryInformationLi​st·​count="1">488730 ······​<SummaryInformationLi​st·​count="0">
488665 ········<SummaryInformation·id="-​1"·lang="nl">
488666 ··········<TextSectionList·count="0">
488667 ··········</​TextSectionList>
488668 ··········<TextAuto>
488669 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
488670 ··········</​TextAuto>
488671 ········</​SummaryInformation>
488672 ······​</​SummaryInformationLis​t>488731 ······​</​SummaryInformationLis​t>
488673 ····​</​Disorder>488732 ····​</​Disorder>
488674 ····​<Disorder·​id="25148">488733 ····​<Disorder·​id="25148">
488693 ······​</​ExternalReferenceList​>488752 ······​</​ExternalReferenceList​>
488694 ······​<DisorderDisorderAsso​ciationList·​count="0">488753 ······​<DisorderDisorderAsso​ciationList·​count="0">
488695 ······​</​DisorderDisorderAssoc​iationList>488754 ······​</​DisorderDisorderAssoc​iationList>
488696 ······​<SummaryInformationLi​st·​count="1">488755 ······​<SummaryInformationLi​st·​count="0">
488697 ········<SummaryInformation·id="-​1"·lang="nl">
488698 ··········<TextSectionList·count="0">
488699 ··········</​TextSectionList>
488700 ··········<TextAuto>
488701 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
488702 ··········</​TextAuto>
488703 ········</​SummaryInformation>
488704 ······​</​SummaryInformationLis​t>488756 ······​</​SummaryInformationLis​t>
488705 ····​</​Disorder>488757 ····​</​Disorder>
488706 ····​<Disorder·​id="25150">488758 ····​<Disorder·​id="25150">
488777 ······​</​ExternalReferenceList​>488829 ······​</​ExternalReferenceList​>
488778 ······​<DisorderDisorderAsso​ciationList·​count="0">488830 ······​<DisorderDisorderAsso​ciationList·​count="0">
488779 ······​</​DisorderDisorderAssoc​iationList>488831 ······​</​DisorderDisorderAssoc​iationList>
488780 ······​<SummaryInformationLi​st·​count="1">488832 ······​<SummaryInformationLi​st·​count="0">
488781 ········<SummaryInformation·id="-​1"·lang="nl">
488782 ··········<TextSectionList·count="0">
488783 ··········</​TextSectionList>
488784 ··········<TextAuto>
488785 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
488786 ··········</​TextAuto>
488787 ········</​SummaryInformation>
488788 ······​</​SummaryInformationLis​t>488833 ······​</​SummaryInformationLis​t>
488789 ····​</​Disorder>488834 ····​</​Disorder>
488790 ····​<Disorder·​id="25091">488835 ····​<Disorder·​id="25091">
488845 ······​</​ExternalReferenceList​>488890 ······​</​ExternalReferenceList​>
488846 ······​<DisorderDisorderAsso​ciationList·​count="0">488891 ······​<DisorderDisorderAsso​ciationList·​count="0">
488847 ······​</​DisorderDisorderAssoc​iationList>488892 ······​</​DisorderDisorderAssoc​iationList>
488848 ······​<SummaryInformationLi​st·​count="1">488893 ······​<SummaryInformationLi​st·​count="0">
488849 ········<SummaryInformation·id="-​1"·lang="nl">
488850 ··········<TextSectionList·count="0">
488851 ··········</​TextSectionList>
488852 ··········<TextAuto>
488853 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
488854 ··········</​TextAuto>
488855 ········</​SummaryInformation>
488856 ······​</​SummaryInformationLis​t>488894 ······​</​SummaryInformationLis​t>
488857 ····​</​Disorder>488895 ····​</​Disorder>
488858 ····​<Disorder·​id="25089">488896 ····​<Disorder·​id="25089">
488939 ······​</​ExternalReferenceList​>488977 ······​</​ExternalReferenceList​>
488940 ······​<DisorderDisorderAsso​ciationList·​count="0">488978 ······​<DisorderDisorderAsso​ciationList·​count="0">
488941 ······​</​DisorderDisorderAssoc​iationList>488979 ······​</​DisorderDisorderAssoc​iationList>
488942 ······​<SummaryInformationLi​st·​count="1">488980 ······​<SummaryInformationLi​st·​count="0">
488943 ········<SummaryInformation·id="-​1"·lang="nl">
488944 ··········<TextSectionList·count="0">
488945 ··········</​TextSectionList>
488946 ··········<TextAuto>
488947 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
488948 ··········</​TextAuto>
488949 ········</​SummaryInformation>
488950 ······​</​SummaryInformationLis​t>488981 ······​</​SummaryInformationLis​t>
488951 ····​</​Disorder>488982 ····​</​Disorder>
488952 ····​<Disorder·​id="25093">488983 ····​<Disorder·​id="25093">
489922 ······​</​ExternalReferenceList​>489953 ······​</​ExternalReferenceList​>
489923 ······​<DisorderDisorderAsso​ciationList·​count="0">489954 ······​<DisorderDisorderAsso​ciationList·​count="0">
489924 ······​</​DisorderDisorderAssoc​iationList>489955 ······​</​DisorderDisorderAssoc​iationList>
489925 ······​<SummaryInformationLi​st·​count="0">489956 ······​<SummaryInformationLi​st·​count="1">
489957 ········​<SummaryInformation·​id="129145"·​lang="nl">
489958 ··········​<TextSectionList·​count="1">
489959 ············​<TextSection·​id="167998"·​lang="nl">
489960 ··············​<TextSectionType·​id="16907">
489961 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
489962 ··············​</​TextSectionType>
489963 ··············​<Contents>Een·​zeldzame·​frontonasale·​dysplasie,​·​gekarakteriseerd·​door·​een·​craniofaciaal·​fenotype·​bestaande·​uit·​boller·​voorhoofd·​met·​hoge·​voorste·​haarlijn,​·​ptosis,​·​hypertelorisme,​·​epicanthus·​inversus,​·​platte·​neusbrug,​·​en·​brede·​neuspunt.​·​Grote·​voorste·​fontanel,​·​synostose·​van·​sutura·​sagittalis,​·​en·​anomalieën·​van·​schedelbasis·​werden·​ook·​reeds·​beschreven.​</​Contents>
489964 ············​</​TextSection>
489965 ··········​</​TextSectionList>
489966 ········​</​SummaryInformation>
489926 ······​</​SummaryInformationLis​t>489967 ······​</​SummaryInformationLis​t>
489927 ····​</​Disorder>489968 ····​</​Disorder>
489928 ····​<Disorder·​id="25400">489969 ····​<Disorder·​id="25400">
491121 ··············​<TextSectionType·​id="16907">491162 ··············​<TextSectionType·​id="16907">
491122 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>491163 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
491123 ··············​</​TextSectionType>491164 ··············​</​TextSectionType>
491124 ··············​<Contents>De·ziekte·van·Tangier·(TD)​·is·een·​zeldzame·stoornis·van·het·lipoproteïnemetabolis​me·dat·​biochemisch·​gekenmerkt·wordt·​door·een·bijna·​volledige·​afwezigheid·​van·high-​densitiy-​lipoproteïnen·​(HDL)​·​in·het·​plasma,​·​en·​klinisch·​door·​vergroting·​van·de·​lever,​·​milt,​·​lymfeklieren·​en·​keelamandelen,​·​samen·​met·​perifere·​neuropathie·bij·kinderen·en·adolescenten,​·​en,​·occasioneel,​·​cardiovasculaire·​ziekten·bij·volwassenen.​</​Contents>491165 ··············​<Contents>Een·​zeldzame,​·genetische·neurometabole·aandoening,​·​biochemisch·​gekarakteriseerd·​door·nagenoeg·​volledige·​afwezigheid·​van·lipoproteïnen·met·hoge·densiteit·​(HDL)​·​in·​plasma,​·​en·​klinisch·​door·​vergroting·​van·​lever,​·​milt,​·​lymfeklieren·​en·​keelamandelen,​·​samen·​met·multifocale·​perifere·​neuropathie,​·aandoeningen·van·cornea·en·van·huid·​en·nagels,​·en·soms·​cardiovasculaire·​ziekte.​</​Contents>
491125 ············​</​TextSection>491166 ············​</​TextSection>
491126 ··········​</​TextSectionList>491167 ··········​</​TextSectionList>
491127 ········​</​SummaryInformation>491168 ········​</​SummaryInformation>
492629 ····​<Disorder·​id="10987">492670 ····​<Disorder·​id="10987">
492630 ······​<OrphaCode>71212</​OrphaCode>492671 ······​<OrphaCode>71212</​OrphaCode>
492631 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=71212</​ExpertLink>492672 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=71212</​ExpertLink>
492632 ······​<Name·​lang="nl">Hyperinsuli​nisme·als·gevolg·​van·​korte·keten·3-​hydroxylacyl-​CoA-​dehydrogenasedeficiën​tie</​Name>492673 ······​<Name·​lang="nl">Hyperinsuli​nisme·door·deficiëntie·​van·​korte-​keten-​3-​hydroxylacyl-​CoA-​dehydrogenase</​Name>
492633 ······​<DisorderFlagList·​count="1">492674 ······​<DisorderFlagList·​count="1">
492634 ········​<DisorderFlag·​id="475">492675 ········​<DisorderFlag·​id="475">
492635 ··········​<Value>1</​Value>492676 ··········​<Value>1</​Value>
492637 ········​</​DisorderFlag>492678 ········​</​DisorderFlag>
492638 ······​</​DisorderFlagList>492679 ······​</​DisorderFlagList>
492639 ······​<SynonymList·​count="4">492680 ······​<SynonymList·​count="4">
492640 ········​<Synonym·​lang="nl">Hyperinsuli​nemische·​hypoglycemie·als·gevolg·​van·​korte·keten·3-​hydroxylacyl-​CoA-​dehydrogenasedeficiën​tie</​Synonym>492681 ········​<Synonym·​lang="nl">Hyperinsuli​nemische·​hypoglycemie·door·deficiëntie·​van·​korte-​keten-​3-​hydroxylacyl-​CoA-​dehydrogenase</​Synonym>
492641 ········​<Synonym·​lang="nl">Hyperinsuli​nisme·als·gevolg·​van·​SCHAD-​deficiëntie</​Synonym>492682 ········​<Synonym·​lang="nl">Hyperinsuli​nisme·door·deficiëntie·​van·​SCHAD</​Synonym>
492642 ········​<Synonym·​lang="nl">Hyperinsuli​nisme·als·gevolg·​van·​glutamodehydrogenased​eficiëntie</​Synonym>492683 ········​<Synonym·​lang="nl">Hyperinsuli​nisme·door·deficiëntie·​van·​glutamodehydrogenase<​/​Synonym>
492643 ········​<Synonym·​lang="nl">SCHAD-​deficiëntie</​Synonym>492684 ········​<Synonym·​lang="nl">SCHAD-​deficiëntie</​Synonym>
492644 ······​</​SynonymList>492685 ······​</​SynonymList>
492645 ······​<DisorderType·​id="21394">492686 ······​<DisorderType·​id="21394">
496619 ········​</​DisorderFlag>496660 ········​</​DisorderFlag>
496620 ······​</​DisorderFlagList>496661 ······​</​DisorderFlagList>
496621 ······​<SynonymList·​count="3">496662 ······​<SynonymList·​count="3">
496622 ········​<Synonym·​lang="nl">3-​methylglutaconyl-​CoA-​hydratasedeficiëntie<​/​Synonym>496663 ········​<Synonym·​lang="nl">Deficiëntie​·van·3-​methylglutaconyl-​CoA-​hydratase</​Synonym>
496623 ········​<Synonym·​lang="nl">3MG-​CoA-​hydratasedeficiëntie<​/​Synonym>496664 ········​<Synonym·​lang="nl">Deficiëntie​·van·3MG-​CoA-​hydratase</​Synonym>
496624 ········​<Synonym·​lang="nl">MGA1</​Synonym>496665 ········​<Synonym·​lang="nl">MGA1</​Synonym>
496625 ······​</​SynonymList>496666 ······​</​SynonymList>
496626 ······​<DisorderType·​id="21394">496667 ······​<DisorderType·​id="21394">
497479 ······​</​ExternalReferenceList​>497520 ······​</​ExternalReferenceList​>
497480 ······​<DisorderDisorderAsso​ciationList·​count="0">497521 ······​<DisorderDisorderAsso​ciationList·​count="0">
497481 ······​</​DisorderDisorderAssoc​iationList>497522 ······​</​DisorderDisorderAssoc​iationList>
497482 ······​<SummaryInformationLi​st·​count="0">497523 ······​<SummaryInformationLi​st·​count="1">
497524 ········​<SummaryInformation·​id="129002"·​lang="nl">
497525 ··········​<TextSectionList·​count="1">
497526 ············​<TextSection·​id="167926"·​lang="nl">
497527 ··············​<TextSectionType·​id="16907">
497528 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
497529 ··············​</​TextSectionType>
497530 ··············​<Contents>Een·​zeldzame·​neoplastische·​aandoening,​·​gekarakteriseerd·​door·​een·​gelokaliseerde,​·​unifocale,​·​laaggradige·​tumor·​bestaande·​uit·​rijpe·​mestcellen,​·​zonder·​bewijs·​van·​systemische·​mastocytose·​of·​huidlaesies.​·​De·​tumor·​ontstaat·​doorgaans·​in·​long·​en·​toont·​een·​niet-​destructief·​groeipatroon.​</​Contents>
497531 ············​</​TextSection>
497532 ··········​</​TextSectionList>
497533 ········​</​SummaryInformation>
497483 ······​</​SummaryInformationLis​t>497534 ······​</​SummaryInformationLis​t>
497484 ····​</​Disorder>497535 ····​</​Disorder>
497485 ····​<Disorder·​id="10897">497536 ····​<Disorder·​id="10897">
498056 ····​<Disorder·​id="10887">498107 ····​<Disorder·​id="10887">
498057 ······​<OrphaCode>66629</​OrphaCode>498108 ······​<OrphaCode>66629</​OrphaCode>
498058 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=66629</​ExpertLink>498109 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=66629</​ExpertLink>
498059 ······​<Name·​lang="nl">Goldberg-​Shprintzen·megacolonsyndroom</​Name>498110 ······​<Name·​lang="nl">Megacolonsy​ndroom·van·Goldberg-​Shprintzen</​Name>
498060 ······​<DisorderFlagList·​count="1">498111 ······​<DisorderFlagList·​count="1">
498061 ········​<DisorderFlag·​id="475">498112 ········​<DisorderFlag·​id="475">
498062 ··········​<Value>1</​Value>498113 ··········​<Value>1</​Value>
498065 ······​</​DisorderFlagList>498116 ······​</​DisorderFlagList>
498066 ······​<SynonymList·​count="2">498117 ······​<SynonymList·​count="2">
498067 ········​<Synonym·​lang="nl">GOSHS</​Synonym>498118 ········​<Synonym·​lang="nl">GOSHS</​Synonym>
498068 ········​<Synonym·​lang="nl">Megacolon·​-​·​microcefalie</​Synonym>498119 ········​<Synonym·​lang="nl">Megacolon·​-​·​microcefalie-​syndroom</​Synonym>
498069 ······​</​SynonymList>498120 ······​</​SynonymList>
498070 ······​<DisorderType·​id="21401">498121 ······​<DisorderType·​id="21401">
498071 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>498122 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
498206 ··········​<Label></​Label>498257 ··········​<Label></​Label>
498207 ········​</​DisorderFlag>498258 ········​</​DisorderFlag>
498208 ······​</​DisorderFlagList>498259 ······​</​DisorderFlagList>
498209 ······​<SynonymList·​count="5">498260 ······​<SynonymList·​count="6">
498210 ········​<Synonym·​lang="nl">Diffuus·​type·​GCT</​Synonym>498261 ········​<Synonym·​lang="nl">Diffuus·​type·​GCT</​Synonym>
498211 ········​<Synonym·​lang="nl">Diffuus·​type·​reusceltumor</​Synonym>498262 ········​<Synonym·​lang="nl">Diffuus·​type·​reusceltumor</​Synonym>
498263 ········​<Synonym·​lang="nl">Synoviitis·​villonodularis·​pigmentosa</​Synonym>
498212 ········​<Synonym·​lang="nl">TGCT</​Synonym>498264 ········​<Synonym·​lang="nl">TGCT</​Synonym>
498213 ········​<Synonym·​lang="nl">TSGCT</​Synonym>498265 ········​<Synonym·​lang="nl">TSGCT</​Synonym>
498214 ········​<Synonym·​lang="nl">Tenosynovia​le·​reusceltumor</​Synonym>498266 ········​<Synonym·​lang="nl">Tenosynovia​le·​reusceltumor</​Synonym>
498534 ····​<Disorder·​id="10880">498586 ····​<Disorder·​id="10880">
498535 ······​<OrphaCode>65798</​OrphaCode>498587 ······​<OrphaCode>65798</​OrphaCode>
498536 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=65798</​ExpertLink>498588 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=65798</​ExpertLink>
498537 ······​<Name·​lang="nl">Goodmansynd​room</​Name>498589 ······​<Name·​lang="nl">Syndroom·van·Goodman</​Name>
498538 ······​<DisorderFlagList·​count="2">498590 ······​<DisorderFlagList·​count="2">
498539 ········​<DisorderFlag·​id="460">498591 ········​<DisorderFlag·​id="460">
498540 ··········​<Value>512</​Value>498592 ··········​<Value>512</​Value>
498957 ····​<Disorder·​id="10866">499009 ····​<Disorder·​id="10866">
498958 ······​<OrphaCode>65284</​OrphaCode>499010 ······​<OrphaCode>65284</​OrphaCode>
498959 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=65284</​ExpertLink>499011 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=65284</​ExpertLink>
498960 ······​<Name·​lang="nl">Biotine-​thiamine-​responsieve·​ziekte·​van·de·​basale·​ganglia</​Name>499012 ······​<Name·​lang="nl">Biotine-​thiamine-​responsieve·​ziekte·​van·​basale·​ganglia</​Name>
498961 ······​<DisorderFlagList·​count="1">499013 ······​<DisorderFlagList·​count="1">
498962 ········​<DisorderFlag·​id="475">499014 ········​<DisorderFlag·​id="475">
498963 ··········​<Value>1</​Value>499015 ··········​<Value>1</​Value>
498967 ······​<SynonymList·​count="3">499019 ······​<SynonymList·​count="3">
498968 ········​<Synonym·​lang="nl">BBGD</​Synonym>499020 ········​<Synonym·​lang="nl">BBGD</​Synonym>
498969 ········​<Synonym·​lang="nl">BTBGD</​Synonym>499021 ········​<Synonym·​lang="nl">BTBGD</​Synonym>
498970 ········​<Synonym·​lang="nl">Biotine-​responsieve·​ziekte·​van·de·​basale·​ganglia·/​·BBGD·/​·BTBGD</​Synonym>499022 ········​<Synonym·​lang="nl">Biotine-​responsieve·​ziekte·​van·​basale·​ganglia</​Synonym>
498971 ······​</​SynonymList>499023 ······​</​SynonymList>
498972 ······​<DisorderType·​id="21394">499024 ······​<DisorderType·​id="21394">
498973 ········​<Name·​lang="nl">Ziekte</​Name>499025 ········​<Name·​lang="nl">Ziekte</​Name>
500245 ······​</​ExternalReferenceList​>500297 ······​</​ExternalReferenceList​>
500246 ······​<DisorderDisorderAsso​ciationList·​count="0">500298 ······​<DisorderDisorderAsso​ciationList·​count="0">
500247 ······​</​DisorderDisorderAssoc​iationList>500299 ······​</​DisorderDisorderAssoc​iationList>
500248 ······​<SummaryInformationLi​st·​count="1">500300 ······​<SummaryInformationLi​st·​count="0">
500249 ········<SummaryInformation·id="-​1"·lang="nl">
500250 ··········<TextSectionList·count="0">
500251 ··········</​TextSectionList>
500252 ··········<TextAuto>
500253 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
500254 ··········</​TextAuto>
500255 ········</​SummaryInformation>
500256 ······​</​SummaryInformationLis​t>500301 ······​</​SummaryInformationLis​t>
500257 ····​</​Disorder>500302 ····​</​Disorder>
500258 ····​<Disorder·​id="10851">500303 ····​<Disorder·​id="10851">
501946 ····​<Disorder·​id="10843">501991 ····​<Disorder·​id="10843">
501947 ······​<OrphaCode>64739</​OrphaCode>501992 ······​<OrphaCode>64739</​OrphaCode>
501948 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=64739</​ExpertLink>501993 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=64739</​ExpertLink>
501949 ······​<Name·​lang="nl">Ovariumhype​rstimulatiesyndroom</​Name>501994 ······​<Name·​lang="nl">Ovarieel·hyperstimulatiesyndro​om</​Name>
501950 ······​<DisorderFlagList·​count="1">501995 ······​<DisorderFlagList·​count="1">
501951 ········​<DisorderFlag·​id="475">501996 ········​<DisorderFlag·​id="475">
501952 ··········​<Value>1</​Value>501997 ··········​<Value>1</​Value>
501953 ··········​<Label></​Label>501998 ··········​<Label></​Label>
501954 ········​</​DisorderFlag>501999 ········​</​DisorderFlag>
501955 ······​</​DisorderFlagList>502000 ······​</​DisorderFlagList>
501956 ······​<SynonymList·​count="1">502001 ······​<SynonymList·​count="2">
501957 ········​<Synonym·​lang="nl">OHSS</​Synonym>502002 ········​<Synonym·​lang="nl">OHSS</​Synonym>
502003 ········​<Synonym·​lang="nl">Ovariumhype​rstimulatiesyndroom</​Synonym>
501958 ······​</​SynonymList>502004 ······​</​SynonymList>
501959 ······​<DisorderType·​id="21394">502005 ······​<DisorderType·​id="21394">
501960 ········​<Name·​lang="nl">Ziekte</​Name>502006 ········​<Name·​lang="nl">Ziekte</​Name>
502338 ······​</​ExternalReferenceList​>502384 ······​</​ExternalReferenceList​>
502339 ······​<DisorderDisorderAsso​ciationList·​count="0">502385 ······​<DisorderDisorderAsso​ciationList·​count="0">
502340 ······​</​DisorderDisorderAssoc​iationList>502386 ······​</​DisorderDisorderAssoc​iationList>
502341 ······​<SummaryInformationLi​st·​count="0">502387 ······​<SummaryInformationLi​st·​count="1">
502388 ········​<SummaryInformation·​id="129119"·​lang="nl">
502389 ··········​<TextSectionList·​count="1">
502390 ············​<TextSection·​id="167972"·​lang="nl">
502391 ··············​<TextSectionType·​id="16907">
502392 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
502393 ··············​</​TextSectionType>
502394 ··············​<Contents>Een·​zeldzame·​tumor·​van·​luchtwegen,​·​gekarakteriseerd·​door·​een·​agressief,​·​maligne,​·​dysontogenetisch·​neoplasma·​van·​intrathoracaal·​(pulmonaal,​·​pleuraal,​·​of·​gecombineerd)​·​mesenchym·​dat·​voorkomt·​bij·​jonge·​kinderen.​·​Er·​worden·​drie·​subtypes·​onderscheiden:​·​type·​1·​is·​zuiver·​cystisch,​·​type·​2·​is·​cystisch·​en·​solide,​·​en·​type·​3·​is·​zuiver·​solide.​·​Type·​1·​laesies·​kunnen·​evolueren·​tot·​de·​meer·​maligne·​types·​2·​en·​3,​·​die·​geassocieerd·​zijn·​met·​metastase·​naar·​centraal·​zenuwstelsel·​en·​bot.​·​De·​tumor·​maakt·​vaak·​deel·​uit·​van·​familiaal·​tumorpredispositiesyn​droom·​voor·​pleuropulmonaal·​blastoom·​en·​dysplasiesyndroom.​·​Het·​kan·​ook·​geassocieerd·​zijn·​met·​multiloculair·​cystisch·​nefroom·​of·​andere·​neoplasmata.​·​Patiënten·​presenteren·​zich·​meestal·​met·​dyspneu·​of·​andere·​ademhalingsproblemen,​·​en·​soms·​met·​klaplong.​</​Contents>
502395 ············​</​TextSection>
502396 ··········​</​TextSectionList>
502397 ········​</​SummaryInformation>
502342 ······​</​SummaryInformationLis​t>502398 ······​</​SummaryInformationLis​t>
502343 ····​</​Disorder>502399 ····​</​Disorder>
502344 ····​<Disorder·​id="10845">502400 ····​<Disorder·​id="10845">
502533 ······​</​ExternalReferenceList​>502589 ······​</​ExternalReferenceList​>
502534 ······​<DisorderDisorderAsso​ciationList·​count="0">502590 ······​<DisorderDisorderAsso​ciationList·​count="0">
502535 ······​</​DisorderDisorderAssoc​iationList>502591 ······​</​DisorderDisorderAssoc​iationList>
502536 ······​<SummaryInformationLi​st·​count="1">502592 ······​<SummaryInformationLi​st·​count="0">
502537 ········<SummaryInformation·id="-​1"·lang="nl">
502538 ··········<TextSectionList·count="0">
502539 ··········</​TextSectionList>
502540 ··········<TextAuto>
502541 ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.​·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.​</​Info>
502542 ··········</​TextAuto>
502543 ········</​SummaryInformation>
502544 ······​</​SummaryInformationLis​t>502593 ······​</​SummaryInformationLis​t>
502545 ····​</​Disorder>502594 ····​</​Disorder>
502546 ····​<Disorder·​id="10818">502595 ····​<Disorder·​id="10818">
503187 ······​</​ExternalReferenceList​>503236 ······​</​ExternalReferenceList​>
503188 ······​<DisorderDisorderAsso​ciationList·​count="0">503237 ······​<DisorderDisorderAsso​ciationList·​count="0">
503189 ······​</​DisorderDisorderAssoc​iationList>503238 ······​</​DisorderDisorderAssoc​iationList>
503190 ······​<SummaryInformationLi​st·​count="1">503239 ······​<SummaryInformationLi​st·​count="0">
503191 ········<SummaryInformation·id="-​1"·lang="nl">
503192 ··········<TextSectionList·count="0">
503193 ··········</​TextSectionList>
503194 ··········<TextAuto>
503195 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
503196 ··········</​TextAuto>
503197 ········</​SummaryInformation>
503198 ······​</​SummaryInformationLis​t>503240 ······​</​SummaryInformationLis​t>
503199 ····​</​Disorder>503241 ····​</​Disorder>
503200 ····​<Disorder·​id="10827">503242 ····​<Disorder·​id="10827">
503313 ······​</​ExternalReferenceList​>503355 ······​</​ExternalReferenceList​>
503314 ······​<DisorderDisorderAsso​ciationList·​count="0">503356 ······​<DisorderDisorderAsso​ciationList·​count="0">
503315 ······​</​DisorderDisorderAssoc​iationList>503357 ······​</​DisorderDisorderAssoc​iationList>
503316 ······​<SummaryInformationLi​st·​count="1">503358 ······​<SummaryInformationLi​st·​count="0">
503317 ········<SummaryInformation·id="-​1"·lang="nl">
503318 ··········<TextSectionList·count="0">
503319 ··········</​TextSectionList>
503320 ··········<TextAuto>
503321 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
503322 ··········</​TextAuto>
503323 ········</​SummaryInformation>
503324 ······​</​SummaryInformationLis​t>503359 ······​</​SummaryInformationLis​t>
503325 ····​</​Disorder>503360 ····​</​Disorder>
503326 ····​<Disorder·​id="10825">503361 ····​<Disorder·​id="10825">
505930 ····​<Disorder·​id="10782">505965 ····​<Disorder·​id="10782">
505931 ······​<OrphaCode>59135</​OrphaCode>505966 ······​<OrphaCode>59135</​OrphaCode>
505932 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=59135</​ExpertLink>505967 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=59135</​ExpertLink>
505933 ······​<Name·​lang="nl">Laing·distale·​myopathie·​met·​vroege·​aanvang</​Name>505968 ······​<Name·​lang="nl">Distale·​myopathie·​met·​vroege·​aanvang,​·Laing-​type</​Name>
505934 ······​<DisorderFlagList·​count="1">505969 ······​<DisorderFlagList·​count="1">
505935 ········​<DisorderFlag·​id="475">505970 ········​<DisorderFlag·​id="475">
505936 ··········​<Value>1</​Value>505971 ··········​<Value>1</​Value>
508784 ······​</​DisorderFlagList>508819 ······​</​DisorderFlagList>
508785 ······​<SynonymList·​count="4">508820 ······​<SynonymList·​count="4">
508786 ········​<Synonym·​lang="nl">Bilirubine-​UGT-​deficiëntie·​type·​1</​Synonym>508821 ········​<Synonym·​lang="nl">Bilirubine-​UGT-​deficiëntie·​type·​1</​Synonym>
508787 ········​<Synonym·​lang="nl">Bilirubine-​uridinedifosfaat-​glucuronosyltransfera​sedeficiëntie·​type·​1</​Synonym>508822 ········​<Synonym·​lang="nl">Deficiëntie​·van·bilirubine-​uridinedifosfaat-​glucuronosyltransfera​se·​type·​1</​Synonym>
508788 ········​<Synonym·​lang="nl">Erfelijke·​ongeconjugeerde·​hyperbilirubinemie·​type·​1</​Synonym>508823 ········​<Synonym·​lang="nl">Erfelijke·​ongeconjugeerde·​hyperbilirubinemie·​type·​1</​Synonym>
508789 ········​<Synonym·​lang="nl">UGT-​deficiëntie·​type·​1</​Synonym>508824 ········​<Synonym·​lang="nl">UGT-​deficiëntie·​type·​1</​Synonym>
508790 ······​</​SynonymList>508825 ······​</​SynonymList>
508902 ······​</​DisorderFlagList>508937 ······​</​DisorderFlagList>
508903 ······​<SynonymList·​count="5">508938 ······​<SynonymList·​count="5">
508904 ········​<Synonym·​lang="nl">Bilirubine-​UGT-​deficiëntie·​type·​2</​Synonym>508939 ········​<Synonym·​lang="nl">Bilirubine-​UGT-​deficiëntie·​type·​2</​Synonym>
508905 ········​<Synonym·​lang="nl">Bilirubine-​uridinedifosfaat-​glucuronosyltransfera​sedeficiëntie·​type·​2</​Synonym>508940 ········​<Synonym·​lang="nl">Deficiëntie​·van·bilirubine-​uridinedifosfaat-​glucuronosyltransfera​se·​type·​2</​Synonym>
508906 ········​<Synonym·​lang="nl">Erfelijke·​ongeconjugeerde·​hyperbilirubinemie·​type·​2</​Synonym>508941 ········​<Synonym·​lang="nl">Erfelijke·​ongeconjugeerde·​hyperbilirubinemie·​type·​2</​Synonym>
508907 ········​<Synonym·​lang="nl">Syndroom·​van·​Arias</​Synonym>508942 ········​<Synonym·​lang="nl">Syndroom·​van·​Arias</​Synonym>
508908 ········​<Synonym·​lang="nl">UGT-​deficiëntie·​type·​2</​Synonym>508943 ········​<Synonym·​lang="nl">UGT-​deficiëntie·​type·​2</​Synonym>
511226 ····​<Disorder·​id="11176">511261 ····​<Disorder·​id="11176">
511227 ······​<OrphaCode>79150</​OrphaCode>511262 ······​<OrphaCode>79150</​OrphaCode>
511228 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79150</​ExpertLink>511263 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79150</​ExpertLink>
511229 ······​<Name·​lang="nl">Lineaire·​en·gedraaide·​nevoïde·​hypermelanosis</​Name>511264 ······​<Name·​lang="nl">Lineaire·​en·spiraalvormige·​naevoïde·​hypermelanose</​Name>
511230 ······​<DisorderFlagList·​count="1">511265 ······​<DisorderFlagList·​count="1">
511231 ········​<DisorderFlag·​id="475">511266 ········​<DisorderFlag·​id="475">
511232 ··········​<Value>1</​Value>511267 ··········​<Value>1</​Value>
512109 ····​<Disorder·​id="11194">512144 ····​<Disorder·​id="11194">
512110 ······​<OrphaCode>79168</​OrphaCode>512145 ······​<OrphaCode>79168</​OrphaCode>
512111 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79168</​ExpertLink>512146 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79168</​ExpertLink>
512112 ······​<Name·​lang="nl">Defect·​van·​galzuursynthese</​Name>512147 ······​<Name·​lang="nl">Aandoening·​van·​galzuursynthese</​Name>
512113 ······​<DisorderFlagList·​count="1">512148 ······​<DisorderFlagList·​count="1">
512114 ········​<DisorderFlag·​id="475">512149 ········​<DisorderFlag·​id="475">
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512276 ······​<DisorderDisorderAsso​ciationList·​count="0">512311 ······​<DisorderDisorderAsso​ciationList·​count="0">
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512278 ······​<SummaryInformationLi​st·​count="1">512313 ······​<SummaryInformationLi​st·​count="0">
512279 ········<SummaryInformation·id="-​1"·lang="nl">
512280 ··········<TextSectionList·count="0">
512281 ··········</​TextSectionList>
512282 ··········<TextAuto>
512283 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
512284 ··········</​TextAuto>
512285 ········</​SummaryInformation>
512286 ······​</​SummaryInformationLis​t>512314 ······​</​SummaryInformationLis​t>
512287 ····​</​Disorder>512315 ····​</​Disorder>
512288 ····​<Disorder·​id="11189">512316 ····​<Disorder·​id="11189">
512741 ··········​<TargetDisorder·​id="28494"·​cycle="true"/​>512769 ··········​<TargetDisorder·​id="28494"·​cycle="true"/​>
512742 ··········​<RootDisorder·​id="17596">512770 ··········​<RootDisorder·​id="17596">
512743 ············​<OrphaCode>165994</​OrphaCode>512771 ············​<OrphaCode>165994</​OrphaCode>
512744 ············​<Name·​lang="nl">Resistentie​·​van·de·​hypofyse·​tegen·​schildklierhormoon</​Name>512772 ············​<Name·​lang="nl">Resistentie​·​van·​hypofyse·​tegen·​schildklierhormoon</​Name>
512745 ··········​</​RootDisorder>512773 ··········​</​RootDisorder>
512746 ··········​<DisorderDisorderAsso​ciationType·​id="21471">512774 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
512747 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>512775 ············​<Name·​lang="nl">Verplaatst·​naar</​Name>
512846 ······​</​ExternalReferenceList​>512874 ······​</​ExternalReferenceList​>
512847 ······​<DisorderDisorderAsso​ciationList·​count="0">512875 ······​<DisorderDisorderAsso​ciationList·​count="0">
512848 ······​</​DisorderDisorderAssoc​iationList>512876 ······​</​DisorderDisorderAssoc​iationList>
512849 ······​<SummaryInformationLi​st·​count="0">512877 ······​<SummaryInformationLi​st·​count="1">
512878 ········​<SummaryInformation·​id="129124"·​lang="nl">
512879 ··········​<TextSectionList·​count="1">
512880 ············​<TextSection·​id="167977"·​lang="nl">
512881 ··············​<TextSectionType·​id="16907">
512882 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
512883 ··············​</​TextSectionType>
512884 ··············​<Contents>Een·​zeldzame·​systemische·​mastocytose,​·​gekarakteriseerd·​door·​de·​aanwezigheid·​van·​minstens·​20%·​meestal·​onrijpe·​en·​atypische·​mestcellen·​in·​uitstrijkjes·​van·​aspiraat·​van·​beenmerg.​·​Bij·​klassieke·​mestcelleukemie·​vertegenwoordigen·​mestcellen·​minstens·​10%·​van·​de·​perifere·​witte·​bloedcellen,​·​maar·​de·​aleukemische·​variant·​met·​minder·​dan·​10%·​mestcellen·​komt·​vaker·​voor.​·​C-​bevindingen·​(cytopenie,​·​hepatomegalie,​·​ascites,​·​portale·​hypertensie,​·​splenomegalie,​·​laesies·​van·​skelet,​·​malabsorptie)​,​·​die·​wijzen·​op·​orgaanschade·​door·​infiltratie·​van·​mestcellen,​·​zijn·​meestal·​aanwezig·​bij·​de·​diagnose,​·​terwijl·​huidlaesies·​in·​de·​meeste·​gevallen·​afwezig·​zijn.​·​De·​prognose·​is·​doorgaans·​slecht.​</​Contents>
512885 ············​</​TextSection>
512886 ··········​</​TextSectionList>
512887 ········​</​SummaryInformation>
512850 ······​</​SummaryInformationLis​t>512888 ······​</​SummaryInformationLis​t>
512851 ····​</​Disorder>512889 ····​</​Disorder>
512852 ····​<Disorder·​id="11150">512890 ····​<Disorder·​id="11150">
512853 ······​<OrphaCode>79113</​OrphaCode>512891 ······​<OrphaCode>79113</​OrphaCode>
512854 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79113</​ExpertLink>512892 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79113</​ExpertLink>
512855 ······​<Name·​lang="nl">Mandibulofa​ciale·​dysostose-​microcefaliesyndroom<​/​Name>512893 ······​<Name·​lang="nl">Mandibulofa​ciale·​dysostose·-​·microcefalie-​syndroom</​Name>
512856 ······​<DisorderFlagList·​count="1">512894 ······​<DisorderFlagList·​count="1">
512857 ········​<DisorderFlag·​id="475">512895 ········​<DisorderFlag·​id="475">
512858 ··········​<Value>1</​Value>512896 ··········​<Value>1</​Value>
512861 ······​</​DisorderFlagList>512899 ······​</​DisorderFlagList>
512862 ······​<SynonymList·​count="2">512900 ······​<SynonymList·​count="2">
512863 ········​<Synonym·​lang="nl">MFDM-​syndroom</​Synonym>512901 ········​<Synonym·​lang="nl">MFDM-​syndroom</​Synonym>
512864 ········​<Synonym·​lang="nl">Mandibulofa​ciale·​dysostose,​·​Guion-​Almeida·type</​Synonym>512902 ········​<Synonym·​lang="nl">Mandibulofa​ciale·​dysostose,​·​Guion-​Almeida-​type</​Synonym>
512865 ······​</​SynonymList>512903 ······​</​SynonymList>
512866 ······​<DisorderType·​id="21401">512904 ······​<DisorderType·​id="21401">
512867 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>512905 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
512926 ··············​<TextSectionType·​id="16907">512964 ··············​<TextSectionType·​id="16907">
512927 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>512965 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
512928 ··············​</​TextSectionType>512966 ··············​</​TextSectionType>
512929 ··············​<Contents>Mandibulofa​ciale·dysostose·-​·microcefalie-​syndroom·is·een·zeldzame,​·genetische·multipele·​malformatiestoornis·die·​gekarakteriseerd·wordt·​door·​hypoplasie·​van·het·​jukbeen·en·het·kaakbeen,​·​microcefalie,​·​oormalformaties·​met·​geassocieerd·​conductief·​gehoorverlies,​·​kenmerkende·​gelaatsdysmorfie,​·​ontwikkelingsachterst​and·​en·​intellectuele·​achterstand.​</​Contents>512967 ··············​<Contents>Een·zeldzaam,​·genetisch·syndroom·met·multipele·congenitale·​malformaties,​·​gekarakteriseerd·​door·​hypoplasie·​van·​jukbeenderen·​en·mandibula,​·​microcefalie,​·​oormalformaties·​met·​geassocieerd·​conductief·​gehoorverlies,​·​kenmerkende·faciale·dysmorfie·(met·significante·overlap·met·syndroom·van·Treacher-​Collins)​,​·​ontwikkelingsachterst​and,​·​en·​intellectuele·​achterstand.​</​Contents>
512930 ············​</​TextSection>512968 ············​</​TextSection>
512931 ··········​</​TextSectionList>512969 ··········​</​TextSectionList>
512932 ········​</​SummaryInformation>512970 ········​</​SummaryInformation>
513509 ····​<Disorder·​id="11137">513547 ····​<Disorder·​id="11137">
513510 ······​<OrphaCode>79095</​OrphaCode>513548 ······​<OrphaCode>79095</​OrphaCode>
513511 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79095</​ExpertLink>513549 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79095</​ExpertLink>
513512 ······​<Name·​lang="nl">Congenitaal​·​galzuursynthesedefect​·​type·​4</​Name>513550 ······​<Name·​lang="nl">Congenitaal​·defect·van·​galzuursynthese·​type·​4</​Name>
513513 ······​<DisorderFlagList·​count="1">513551 ······​<DisorderFlagList·​count="1">
513514 ········​<DisorderFlag·​id="475">513552 ········​<DisorderFlag·​id="475">
513515 ··········​<Value>1</​Value>513553 ··········​<Value>1</​Value>
513517 ········​</​DisorderFlag>513555 ········​</​DisorderFlag>
513518 ······​</​DisorderFlagList>513556 ······​</​DisorderFlagList>
513519 ······​<SynonymList·​count="5">513557 ······​<SynonymList·​count="5">
513520 ········​<Synonym·​lang="nl">2-​methylacyl-​CoA-​racemasedeficiëntie</​Synonym>
513521 ········​<Synonym·​lang="nl">AMACR-​deficiëntie</​Synonym>513558 ········​<Synonym·​lang="nl">AMACR-​deficiëntie</​Synonym>
513522 ········​<Synonym·​lang="nl">Alfa-​methylacyl-​CoA-​racemasedeficiëntie</​Synonym>
513523 ········​<Synonym·​lang="nl">BASD4</​Synonym>513559 ········​<Synonym·​lang="nl">BASD4</​Synonym>
513560 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​2-​methylacyl-​CoA-​racemase</​Synonym>
513561 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​alfa-​methylacyl-​CoA-​racemase</​Synonym>
513524 ········​<Synonym·​lang="nl">Leverziekte​·​-​·​retinitis·​pigmentosa·​-​·​polyneuropathie·​-​·​epilepsie-​syndroom</​Synonym>513562 ········​<Synonym·​lang="nl">Leverziekte​·​-​·​retinitis·​pigmentosa·​-​·​polyneuropathie·​-​·​epilepsie-​syndroom</​Synonym>
513525 ······​</​SynonymList>513563 ······​</​SynonymList>
513526 ······​<DisorderType·​id="21394">513564 ······​<DisorderType·​id="21394">
515853 ··········​</​DisorderDisorderAssoc​iationType>515891 ··········​</​DisorderDisorderAssoc​iationType>
515854 ········​</​DisorderDisorderAssoc​iation>515892 ········​</​DisorderDisorderAssoc​iation>
515855 ······​</​DisorderDisorderAssoc​iationList>515893 ······​</​DisorderDisorderAssoc​iationList>
515856 ······​<SummaryInformationLi​st·​count="0">515894 ······​<SummaryInformationLi​st·​count="1">
515895 ········​<SummaryInformation·​id="129122"·​lang="nl">
515896 ··········​<TextSectionList·​count="1">
515897 ············​<TextSection·​id="167975"·​lang="nl">
515898 ··············​<TextSectionType·​id="16907">
515899 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
515900 ··············​</​TextSectionType>
515901 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​syndroom·​met·​multipele·​congenitale·​anomalieën/​dysmorfie,​·​gekarakteriseerd·​door·​de·​associatie·​van·​ooranomalieën·​(zoals·​afwijkingen·​van·​uitwendig·​oor·​en·​postauriculaire·​fistels)​·​en·​gespleten·​lip·​met·​of·​zonder·​gespleten·​verhemelte.​·​Bijkomende·​manifestaties·​zijn·​onder·​meer·​myopie,​·​nystagmus,​·​en·​afwijkingen·​van·​retinaal·​pigment.​</​Contents>
515902 ············​</​TextSection>
515903 ··········​</​TextSectionList>
515904 ········​</​SummaryInformation>
515857 ······​</​SummaryInformationLis​t>515905 ······​</​SummaryInformationLis​t>
515858 ····​</​Disorder>515906 ····​</​Disorder>
515859 ····​<Disorder·​id="11113">515907 ····​<Disorder·​id="11113">
517280 ······​</​ExternalReferenceList​>517328 ······​</​ExternalReferenceList​>
517281 ······​<DisorderDisorderAsso​ciationList·​count="0">517329 ······​<DisorderDisorderAsso​ciationList·​count="0">
517282 ······​</​DisorderDisorderAssoc​iationList>517330 ······​</​DisorderDisorderAssoc​iationList>
517283 ······​<SummaryInformationLi​st·​count="0">517331 ······​<SummaryInformationLi​st·​count="1">
517332 ········​<SummaryInformation·​id="128987"·​lang="nl">
517333 ··········​<TextSectionList·​count="1">
517334 ············​<TextSection·​id="167911"·​lang="nl">
517335 ··············​<TextSectionType·​id="16907">
517336 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
517337 ··············​</​TextSectionType>
517338 ··············​<Contents>Een·​zeldzame,​·​genetische·​neuromusculaire·​aandoening,​·​gekarakteriseerd·​door·​vroege·​aanvang·​van·​proximale·​of·​gegeneraliseerde·​spierzwakte,​·​externe·​oftalmoplegie·​met·​of·​zonder·​ptosis,​·​en·​gewrichtscontracturen​.​·​Hypotonie,​·​neonatale·​ademnood·​met·​nood·​aan·​beademing,​·​en·​ernstige·​dysfagie·​werden·​ook·​reeds·​gerapporteerd.​·​De·​ziekte·​toont·​variabele·​gradaties·​van·​ernst·​en·​is·​niet·​of·​traag·​progressief.​·​Patiënten·​blijven·​doorgaans·​in·​staat·​te·​lopen.​·​Spierbiopsie·​toont·​mogelijk·​overwicht·​van·​type·​1·​vezels,​·​opmerkelijke·​variabiliteit·​van·​vezelgrootte,​·​verhoogd·​aantal·​interne·​nuclei,​·​en·​proliferatie·​van·​perimysiaal·​en·​endomysiaal·​bindweefsel.​</​Contents>
517339 ············​</​TextSection>
517340 ··········​</​TextSectionList>
517341 ········​</​SummaryInformation>
517284 ······​</​SummaryInformationLis​t>517342 ······​</​SummaryInformationLis​t>
517285 ····​</​Disorder>517343 ····​</​Disorder>
517286 ····​<Disorder·​id="11132">517344 ····​<Disorder·​id="11132">
518028 ······​</​ExternalReferenceList​>518086 ······​</​ExternalReferenceList​>
518029 ······​<DisorderDisorderAsso​ciationList·​count="0">518087 ······​<DisorderDisorderAsso​ciationList·​count="0">
518030 ······​</​DisorderDisorderAssoc​iationList>518088 ······​</​DisorderDisorderAssoc​iationList>
518031 ······​<SummaryInformationLi​st·​count="0">518089 ······​<SummaryInformationLi​st·​count="1">
518090 ········​<SummaryInformation·​id="129137"·​lang="nl">
518091 ··········​<TextSectionList·​count="1">
518092 ············​<TextSection·​id="167990"·​lang="nl">
518093 ··············​<TextSectionType·​id="16907">
518094 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
518095 ··············​</​TextSectionType>
518096 ··············​<Contents>Een·​groep·​van·​zeldzame·​malformaties·​van·​centraal·​zenuwstelsel,​·​gekarakteriseerd·​door·​variabele·​gradaties·​van·​afwezigheid·​of·​dysplasie·​van·​structuren·​afgeleid·​van·​het·​prosencephalon·​(i.​e.​·​telencephalon·​en·​diencephalon)​,​·​met·​een·​intact·​schedeldak.​·​Het·​spectrum·​omvat·​atelencefalie,​·​de·​minder·​ernstige·​vorm,​·​waarbij·​enkel·​het·​telencephalon·​is·​aangetast,​·​en·​aprosencefalie,​·​waarbij·​ook·​het·​diencephalon·​betrokken·​is.​·​De·​malformaties·​kunnen·​geïsoleerd·​voorkomen,​·​of·​geassocieerd·​zijn·​met·​andere·​anomalieën.​</​Contents>
518097 ············​</​TextSection>
518098 ··········​</​TextSectionList>
518099 ········​</​SummaryInformation>
518032 ······​</​SummaryInformationLis​t>518100 ······​</​SummaryInformationLis​t>
518033 ····​</​Disorder>518101 ····​</​Disorder>
518034 ····​<Disorder·​id="11080">518102 ····​<Disorder·​id="11080">
518067 ······​</​ExternalReferenceList​>518135 ······​</​ExternalReferenceList​>
518068 ······​<DisorderDisorderAsso​ciationList·​count="0">518136 ······​<DisorderDisorderAsso​ciationList·​count="0">
518069 ······​</​DisorderDisorderAssoc​iationList>518137 ······​</​DisorderDisorderAssoc​iationList>
518070 ······​<SummaryInformationLi​st·​count="0">518138 ······​<SummaryInformationLi​st·​count="1">
518139 ········​<SummaryInformation·​id="129113"·​lang="nl">
518140 ··········​<TextSectionList·​count="1">
518141 ············​<TextSection·​id="167966"·​lang="nl">
518142 ··············​<TextSectionType·​id="16907">
518143 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
518144 ··············​</​TextSectionType>
518145 ··············​<Contents>Een·​zeldzaam·​syndroom·​met·​multipele·​congenitale·​anomalieën/​dysmorfie,​·​gekarakteriseerd·​door·​intra-​uteriene·​groeiretardatie,​·​multipele·​congenitale·​malformaties·​(zoals·​hersenmalformaties·​waaronder·​ectopische·​neurohypofyse,​·​hypoplastische·​adenohypofyse,​·​en·​hypoplastische·​cerebellaire·​vermis,​·​hart-​·​en·​nieranomalieën,​·​en·​postaxiale·​polydactylie)​,​·​abnormale·​haarstructuur·​met·​temporale·​kaalheid,​·​en·​dysmorfe·​gelaatskenmerken·​waaronder·​hypoplastische·​neusbrug,​·​anteversie·​van·​de·​neusgaten,​·​dysplastische·​oren,​·​lang·​en·​glad·​filtrum,​·​smalle·​bovenlip,​·​en·​prominente·​en·​asymmetrische·​onderlip.​·​Postnatale·​groeiretardatie·​en·​ernstige·​ontwikkelingsachterst​and·​werden·​ook·​reeds·​gerapporteerd.​</​Contents>
518146 ············​</​TextSection>
518147 ··········​</​TextSectionList>
518148 ········​</​SummaryInformation>
518071 ······​</​SummaryInformationLis​t>518149 ······​</​SummaryInformationLis​t>
518072 ····​</​Disorder>518150 ····​</​Disorder>
518073 ····​<Disorder·​id="28552">518151 ····​<Disorder·​id="28552">
518442 ··············​<TextSectionType·​id="16907">518520 ··············​<TextSectionType·​id="16907">
518443 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>518521 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
518444 ··············​</​TextSectionType>518522 ··············​</​TextSectionType>
518445 ··············​<Contents>Een·zeldzaam·subtype·​van·​spondylodysplastisch·​syndroom·​van·​Ehlers-​Danlos,​·​gekarakteriseerd·​door·​kleine·​gestalte,​·​variabele·​gradaties·​van·​spierhypotonie,​·​en·verkromming·​van·​ledematen.​·​Bijkomende·​kenmerken·​zijn·​onder·​meer·​typische·​radiografische·bevindingen·(zoals·radio-​ulnaire·synostose,​·​metafysaire·verbreding,​·osteopenie,​·subluxatie·of·dislocatie·van·radiuskop,​·en·korte·sleutelbeenderen·met·brede·mediale·uiteinden)​,​·​hyperelastische·​huid,​·zachte·en·deegachtige·huid,​·​dunne·​doorschijnende·huid,​·vertraagde·​motorische·​en/​or·​cognitieve·​ontwikkeling,​·gegeneraliseerde·gewrichtshypermobilit​eit,​·typische·craniofaciale·kenmerken·​(zoals·driehoekig·of·plat·gelaat,​·ver·uit·elkaar·​staande·ogen,​·proptosis,​·smalle·mond,​·​laagstaande·oren,​·schaars·hoofdhaar,​·abnormaal·gebit,​·en·breed·voorhoofd)​,​·en·ooganomalieën.​·Moleculair·testen·is·vereist·om·de·diagnose·te·bevestigen.​</​Contents>518523 ··············​<Contents>Een·vorm·​van·​spondylodysplastisch·​syndroom·​van·​Ehlers-​Danlos,​·veroorzaakt·door·varianten·in·&lt;​i&gt;​B4GALT7&lt;​/​i&gt;​·en·​gekarakteriseerd·​door·​kleine·​gestalte,​·​variabele·​gradaties·​van·​spierhypotonie,​·gewrichtshypermobilit​eit,​·vooral·van·de·handen,​·en·kromstand·​van·​ledematen.​·​Bijkomende·​kenmerken·​zijn·​onder·​meer·het·​typische·craniofaciale·uiterlijk·(hypoplasie·van·​middengezicht,​·rond·en·plat·gelaat,​·proptosis·​en·smalle·mond)​,​·​hyperelastische·​huid·die·zacht,​·​dun,​·​doorschijnende·en·deegachtig·is,​·​motorische·​en/​of·​cognitieve·​ontwikkelingsachterst​and,​·kenmerkende·​radiografische·bevindingen·​(zoals·​radio-​ulnaire·​synostose,​·​subluxatie·​of·​luxatie·van·radiuskop,​·verbreding·van·metafysen·​en·​osteopenie)​,​·en·ooganomalieën.​</​Contents>
518446 ············​</​TextSection>518524 ············​</​TextSection>
518447 ··········​</​TextSectionList>518525 ··········​</​TextSectionList>
518448 ········​</​SummaryInformation>518526 ········​</​SummaryInformation>
519448 ······​</​ExternalReferenceList​>519526 ······​</​ExternalReferenceList​>
519449 ······​<DisorderDisorderAsso​ciationList·​count="0">519527 ······​<DisorderDisorderAsso​ciationList·​count="0">
519450 ······​</​DisorderDisorderAssoc​iationList>519528 ······​</​DisorderDisorderAssoc​iationList>
519451 ······​<SummaryInformationLi​st·​count="0">519529 ······​<SummaryInformationLi​st·​count="1">
519530 ········​<SummaryInformation·​id="129134"·​lang="nl">
519531 ··········​<TextSectionList·​count="1">
519532 ············​<TextSection·​id="167987"·​lang="nl">
519533 ··············​<TextSectionType·​id="16907">
519534 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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519536 ··············​<Contents>Een·​zeldzame,​·​genetische·​syndromale·​intellectuele·​achterstand,​·​gekarakteriseerd·​door·​taalachterstand·​en·​milde·​tot·​matige·​intellectuele·​achterstand,​·​geassocieerd·​met·​centrale·​obesitas,​·​congenitale·​niet-​progressieve·​retinadystrofie·​met·​slecht·​nachtzicht·​en·​gereduceerde·​gezichtsscherpte,​·​en·​micropenis·​bij·​mannen.​·​In·​het·​tweede·​of·​derde·​levensdecennium·​kan·​cataract·​optreden.​</​Contents>
519537 ············​</​TextSection>
519538 ··········​</​TextSectionList>
519539 ········​</​SummaryInformation>
519452 ······​</​SummaryInformationLis​t>519540 ······​</​SummaryInformationLis​t>
519453 ····​</​Disorder>519541 ····​</​Disorder>
519454 ····​<Disorder·​id="11099">519542 ····​<Disorder·​id="11099">
520558 ······​</​ExternalReferenceList​>520646 ······​</​ExternalReferenceList​>
520559 ······​<DisorderDisorderAsso​ciationList·​count="0">520647 ······​<DisorderDisorderAsso​ciationList·​count="0">
520560 ······​</​DisorderDisorderAssoc​iationList>520648 ······​</​DisorderDisorderAssoc​iationList>
520561 ······​<SummaryInformationLi​st·​count="0">520649 ······​<SummaryInformationLi​st·​count="1">
520650 ········​<SummaryInformation·​id="128985"·​lang="nl">
520651 ··········​<TextSectionList·​count="1">
520652 ············​<TextSection·​id="167909"·​lang="nl">
520653 ··············​<TextSectionType·​id="16907">
520654 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
520655 ··············​</​TextSectionType>
520656 ··············​<Contents>Een·​zeldzaam·​primair·​lymfoedeem,​·​gekarakteriseerd·​door·​bilaterale,​·​pijnloze·​zwelling·​van·​onderste·​ledematen·​die·​aanwezig·​is·​bij·​de·​geboorte.​·​Prominente·​aders·​rond·​de·​enkels·​en·​op·​de·​dorsale·​zijde·​van·​de·​voeten,​·​dysplastische·​en·​opwaarts·​hellende·​teennagels·​als·​gevolg·​van·​oedeem·​van·​het·​nagelbed,​·​en·​subtiele·​dysmorfe·​gelaatskenmerken·​(zoals·​hoog·​voorhoofd,​·​hypertelorisme,​·​ingezakte·​neusbrug,​·​milde·​bilaterale·​dysplasie·​van·​de·​oren,​·​en·​korte·​hals)​·​werden·​ook·​reeds·​beschreven.​·​De·​mate·​van·​aantasting·​van·​lymfevaten·​is·​milder·​dan·​bij·​de·​voor·​het·​overige·​klinisch·​gelijkaardige·​ziekte·​van·​Milroy,​·​zoals·​blijkt·​uit·​iets·​minder·​ernstig·​lymfoedeem·​en·​significant·​meer·​opname·​van·​tracers·​bij·​lymfoscintigrafie.​</​Contents>
520657 ············​</​TextSection>
520658 ··········​</​TextSectionList>
520659 ········​</​SummaryInformation>
520562 ······​</​SummaryInformationLis​t>520660 ······​</​SummaryInformationLis​t>
520563 ····​</​Disorder>520661 ····​</​Disorder>
520564 ····​<Disorder·​id="11054">520662 ····​<Disorder·​id="11054">
520656 ······​</​ExternalReferenceList​>520754 ······​</​ExternalReferenceList​>
520657 ······​<DisorderDisorderAsso​ciationList·​count="0">520755 ······​<DisorderDisorderAsso​ciationList·​count="0">
520658 ······​</​DisorderDisorderAssoc​iationList>520756 ······​</​DisorderDisorderAssoc​iationList>
520659 ······​<SummaryInformationLi​st·​count="0">520757 ······​<SummaryInformationLi​st·​count="1">
520758 ········​<SummaryInformation·​id="129150"·​lang="nl">
520759 ··········​<TextSectionList·​count="1">
520760 ············​<TextSection·​id="168003"·​lang="nl">
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520762 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
520763 ··············​</​TextSectionType>
520764 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​primair·​lymfoedeem,​·​gekarakteriseerd·​door·​unilateraal·​of·​bilateraal·​lymfoedeem·​van·​onderste·​ledematen·​met·​variabele·​gradaties·​van·​ernst.​·​De·​aandoening·​vertoont·​bij·​vrouwen·​nagenoeg·​volledige·​penetrantie·​met·​aanvang·​in·​de·​kindertijd·​of·​adolescentie,​·​maar·​bij·​mannen·​onvolledige·​penetrantie·​en·​latere·​aanvang.​·​Bij·​ernstiger·​getroffen·​individuen·​toont·​lymfoscintigrafie·​afwijkingen·​van·​lymfevaten·​die·​consistent·​zijn·​met·​lymfangiëctasie,​·​disfunctie·​van·​kleppen,​·​en·​reflux·​van·​ductus·​thoracicus.​</​Contents>
520765 ············​</​TextSection>
520766 ··········​</​TextSectionList>
520767 ········​</​SummaryInformation>
520660 ······​</​SummaryInformationLis​t>520768 ······​</​SummaryInformationLis​t>
520661 ····​</​Disorder>520769 ····​</​Disorder>
520662 ····​<Disorder·​id="11050">520770 ····​<Disorder·​id="11050">
520668 ··········​<Value>8192</​Value>520776 ··········​<Value>8192</​Value>
520669 ··········​<Label>Inactive</​Label>520777 ··········​<Label>Inactive</​Label>
520670 ········​</​DisorderFlag>520778 ········​</​DisorderFlag>
520671 ········​<DisorderFlag·​id="461">520779 ········​<DisorderFlag·​id="455">
520672 ··········​<Value>1024</​Value>520780 ··········​<Value>16</​Value>
520673 ··········​<Label>Obsolete·with·resources</​Label>520781 ··········​<Label>Obsolete·​entity</​Label>
520674 ········​</​DisorderFlag>520782 ········​</​DisorderFlag>
520675 ······​</​DisorderFlagList>520783 ······​</​DisorderFlagList>
520676 ······​<SynonymList·​count="0">520784 ······​<SynonymList·​count="0">
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520694 ······​<Name·​lang="nl">Groeiachter​stand·als·gevolg·​van·​insuline-​achtige·​groeifactor·​I-​deficiëntie</​Name>520802 ······​<Name·​lang="nl">Groeiachter​stand·door·deficiëntie·​van·​insulineachtige·​groeifactor·​I</​Name>
520695 ······​<DisorderFlagList·​count="1">520803 ······​<DisorderFlagList·​count="1">
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520699 ········​</​DisorderFlag>520807 ········​</​DisorderFlag>
520700 ······​</​DisorderFlagList>520808 ······​</​DisorderFlagList>
520701 ······​<SynonymList·​count="3">520809 ······​<SynonymList·​count="4">
520702 ········​<Synonym·​lang="nl">Groeiachter​stand·​-​·​doofheid·​-​·​intellectuele·​achterstand-​syndroom</​Synonym>520810 ········​<Synonym·​lang="nl">Groeiachter​stand·​-​·​doofheid·​-​·​intellectuele·​achterstand-​syndroom</​Synonym>
520811 ········​<Synonym·​lang="nl">Groeiachter​stand·​-​·​gehoorverlies·​-​·​intellectuele·​achterstand-​syndroom</​Synonym>
520703 ········​<Synonym·​lang="nl">IGF-​1-​deficiëntie</​Synonym>520812 ········​<Synonym·​lang="nl">IGF-​1-​deficiëntie</​Synonym>
520704 ········​<Synonym·​lang="nl">Primaire·​insuline-​achtige·​groeifactordeficiënti​e</​Synonym>520813 ········​<Synonym·​lang="nl">Primaire·deficiëntie·van·​insulineachtige·​groeifactor</​Synonym>
520705 ······​</​SynonymList>520814 ······​</​SynonymList>
520706 ······​<DisorderType·​id="21394">520815 ······​<DisorderType·​id="21394">
520707 ········​<Name·​lang="nl">Ziekte</​Name>520816 ········​<Name·​lang="nl">Ziekte</​Name>
520765 ····​<Disorder·​id="11049">520874 ····​<Disorder·​id="11049">
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520767 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=73273</​ExpertLink>520876 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=73273</​ExpertLink>
520768 ······​<Name·​lang="nl">Groeiachter​stand·​door·​insuline-​achtige·​groeifactor·​I-​resistentie</​Name>520877 ······​<Name·​lang="nl">Groeiachter​stand·​door·​insulineachtige·​groeifactor·​I-​resistentie</​Name>
520769 ······​<DisorderFlagList·​count="1">520878 ······​<DisorderFlagList·​count="1">
520770 ········​<DisorderFlag·​id="475">520879 ········​<DisorderFlag·​id="475">
520771 ··········​<Value>1</​Value>520880 ··········​<Value>1</​Value>
521465 ······​</​ExternalReferenceList​>521574 ······​</​ExternalReferenceList​>
521466 ······​<DisorderDisorderAsso​ciationList·​count="0">521575 ······​<DisorderDisorderAsso​ciationList·​count="0">
521467 ······​</​DisorderDisorderAssoc​iationList>521576 ······​</​DisorderDisorderAssoc​iationList>
521468 ······​<SummaryInformationLi​st·​count="0">521577 ······​<SummaryInformationLi​st·​count="1">
521578 ········​<SummaryInformation·​id="129139"·​lang="nl">
521579 ··········​<TextSectionList·​count="1">
521580 ············​<TextSection·​id="167992"·​lang="nl">
521581 ··············​<TextSectionType·​id="16907">
521582 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
521583 ··············​</​TextSectionType>
521584 ··············​<Contents>Een·​zeldzaam·​primair·​lymfoedeem,​·​gekarakteriseerd·​door·​een·​zeer·​variabel·​lymfatisch·​fenotype,​·​gaande·​van·​ernstige·​lymfe-​gerelateerde·​hydrops·​foetalis,​·​die·​perinataal·​overlijden·​kan·​veroorzaken·​of·​die·​kan·​verdwijnen·​en·​volledig·​asymptomatisch·​worden,​·​tot·​een·​milde·​presentatie·​bij·​oudere·​patiënten·​met·​persisterende·​spataders,​·​perifeer·​oedeem,​·​en·​verstoorde·​drainage·​van·​lymfe·​in·​onderste·​ledematen.​·​Associatie·​van·​atriumseptumdefect·​werd·​reeds·​beschreven,​·​en·​bij·​sommige·​patiënten·​kan·​dit·​de·​enige·​anomalie·​zijn.​</​Contents>
521585 ············​</​TextSection>
521586 ··········​</​TextSectionList>
521587 ········​</​SummaryInformation>
521469 ······​</​SummaryInformationLis​t>521588 ······​</​SummaryInformationLis​t>
521470 ····​</​Disorder>521589 ····​</​Disorder>
521471 ····​<Disorder·​id="11012">521590 ····​<Disorder·​id="11012">
521603 ······​</​ExternalReferenceList​>521722 ······​</​ExternalReferenceList​>
521604 ······​<DisorderDisorderAsso​ciationList·​count="0">521723 ······​<DisorderDisorderAsso​ciationList·​count="0">
521605 ······​</​DisorderDisorderAssoc​iationList>521724 ······​</​DisorderDisorderAssoc​iationList>
521606 ······​<SummaryInformationLi​st·​count="0">521725 ······​<SummaryInformationLi​st·​count="1">
521726 ········​<SummaryInformation·​id="129008"·​lang="nl">
521727 ··········​<TextSectionList·​count="1">
521728 ············​<TextSection·​id="167932"·​lang="nl">
521729 ··············​<TextSectionType·​id="16907">
521730 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
521731 ··············​</​TextSectionType>
521732 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​primair·​lymfoedeem,​·​gekarakteriseerd·​door·​uniform,​·​wijdverspreid·​lymfoedeem,​·​vaak·​met·​systemische·​betrokkenheid·​zoals·​intestinale·​en·​pulmonale·​lymfangiëctasie,​·​pleurale·​en·​pericardiale·​effusies,​·​en·​chylothorax.​·​Er·​is·​een·​hoge·​incidentie·​van·​niet-​immune·​hydrops·​foetalis,​·​die·​kan·​resulteren·​in·​doodgeboorte·​of·​volledig·​kan·​verdwijnen·​na·​de·​geboorte.​·​Bij·​sommige·​patiënten·​wordt·​ernstige,​·​recidiverende·​faciale·​cellulitis·​waargenomen.​·​Aanwezigheid·​van·​epicanthusplooien·​of·​micrognathie·​werd·​occasioneel·​gerapporteerd,​·​terwijl·​intelligentie·​normaal·​is·​en·​insulten·​afwezig·​zijn.​</​Contents>
521733 ············​</​TextSection>
521734 ··········​</​TextSectionList>
521735 ········​</​SummaryInformation>
521607 ······​</​SummaryInformationLis​t>521736 ······​</​SummaryInformationLis​t>
521608 ····​</​Disorder>521737 ····​</​Disorder>
521609 ····​<Disorder·​id="11013">521738 ····​<Disorder·​id="11013">
521868 ······​</​ExternalReferenceList​>521997 ······​</​ExternalReferenceList​>
521869 ······​<DisorderDisorderAsso​ciationList·​count="0">521998 ······​<DisorderDisorderAsso​ciationList·​count="0">
521870 ······​</​DisorderDisorderAssoc​iationList>521999 ······​</​DisorderDisorderAssoc​iationList>
521871 ······​<SummaryInformationLi​st·​count="0">522000 ······​<SummaryInformationLi​st·​count="1">
522001 ········​<SummaryInformation·​id="129009"·​lang="nl">
522002 ··········​<TextSectionList·​count="1">
522003 ············​<TextSection·​id="167933"·​lang="nl">
522004 ··············​<TextSectionType·​id="16907">
522005 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
522006 ··············​</​TextSectionType>
522007 ··············​<Contents>Een·​zeldzaam·​primair·​lymfoedeem,​·​gekarakteriseerd·​door·​uitgebreid,​·​multisegmentaal·​lymfoedeem,​·​geassocieerd·​met·​persisterende,​·​wijdverspreide·​infecties·​met·​verschillende·​genitale·​hoog-​·​en·​laag-​risico·​humane·​papillomavirussen,​·​en·​resulterend·​in·​multifocale·​anogenitale·​dysplasie.​·​Laboratoriumonderzoek​en·​tonen·​afwijkingen·​van·​bepaalde·​lymfocyten,​·​vooral·​CD4+·​T-​cellen.​·​Epidermale·​naevi·​en·​capillaire·​malformaties·​werden·​ook·​reeds·​gerapporteerd.​</​Contents>
522008 ············​</​TextSection>
522009 ··········​</​TextSectionList>
522010 ········​</​SummaryInformation>
521872 ······​</​SummaryInformationLis​t>522011 ······​</​SummaryInformationLis​t>
521873 ····​</​Disorder>522012 ····​</​Disorder>
521874 ····​<Disorder·​id="28610">522013 ····​<Disorder·​id="28610">
521893 ······​</​ExternalReferenceList​>522032 ······​</​ExternalReferenceList​>
521894 ······​<DisorderDisorderAsso​ciationList·​count="0">522033 ······​<DisorderDisorderAsso​ciationList·​count="0">
521895 ······​</​DisorderDisorderAssoc​iationList>522034 ······​</​DisorderDisorderAssoc​iationList>
521896 ······​<SummaryInformationLi​st·​count="0">522035 ······​<SummaryInformationLi​st·​count="1">
522036 ········​<SummaryInformation·​id="129121"·​lang="nl">
522037 ··········​<TextSectionList·​count="1">
522038 ············​<TextSection·​id="167974"·​lang="nl">
522039 ··············​<TextSectionType·​id="16907">
522040 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
522041 ··············​</​TextSectionType>
522042 ··············​<Contents>Een·​zeldzaam,​·​genetisch·​primair·​lymfoedeem,​·​gekarakteriseerd·​door·​lymfoedeem·​in·​alle·​vier·​de·​ledematen·​met·​een·​aanvangsleeftijd·​gaande·​van·​de·​geboorte·​tot·​de·​volwassenheid.​·​Manifestaties·​hebben·​variabele·​gradaties·​van·​ernst,​·​en·​betrokkenheid·​van·​bovenste·​ledematen·​treedt·​mogelijk·​pas·​later·​in·​het·​ziekteverloop·​op.​·​Recidiverende·​episodes·​van·​cellulitis·​en·​huidinfecties·​worden·​waargenomen·​in·​ernstige·​gevallen.​·​Associatie·​van·​spataders·​en·​veneuze·​insufficiëntie·​werd·​ook·​reeds·​gerapporteerd.​</​Contents>
522043 ············​</​TextSection>
522044 ··········​</​TextSectionList>
522045 ········​</​SummaryInformation>
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534137 ··············​<Contents>Een·​zeldzame·stoornis·​van·het·​bindweefsel·​waarvan·​drie·​types·​bestaan,​·​gerelateerd·​aan·​het·​gen·​&lt;​i&gt;​B4GALT7&lt;​/​i&gt;​,​·het·gen·​&lt;​i&gt;​B3GALT6&lt;​/​i&gt;​·​of·het·gen·​&lt;​i&gt;​SLC39A13&lt;​/​i&gt;​,​·​en·die·overlappende·​klinische·kenmerken·vertonen,​·waaronder·​kleine·​gestalte·​(progressief·​in·​de·​kindertijd)​,​·zachte,​·deegachtige,​·dunne,​·​hyperelastische·​huid,​·musculaire·​hypotonie·​(gaande·​van·​congenitaal·​ernstig·​tot·​mild·​met·​latere·​aanvang)​,​·pes·planus/​equinovarus/​valgus·en,​·meer·​variabel,​·​osteopenie,​·cognitieve·en·​motorische·​ontwikkelingsachterst​and,​·​en·buiging·​van·de·​ledematen.​·​Genspecifieke·​kenmerken,​·​met·​variabele·​presentatie,​·​worden·​bijkomend·​geobserveerd·​in·​elk·​subtype.​</​Contents>534271 ··············​<Contents>Een·​zeldzame·aandoening·​van·​bindweefsel·​waarvan·​drie·subtypes·​bestaan,​·​gerelateerd·​aan·​het·​gen·​&lt;​i&gt;​B4GALT7&lt;​/​i&gt;​,​·​&lt;​i&gt;​B3GALT6&lt;​/​i&gt;​·​of·​&lt;​i&gt;​SLC39A13&lt;​/​i&gt;​,​·​en·met·als·​klinisch·overlappende·kenmerken·onder·meer·​kleine·​gestalte·​(progressief·​in·​de·​kindertijd)​,​·hypermobiliteit·van·kleine·gewrichten,​·​hyperelastische·​huid·en·zachte,​·deegachtige·huid·op·vooral·handen·en·voeten,​·spierhypotonie·​(gaande·​van·​congenitaal·​ernstig·​tot·​mild·​met·​latere·​aanvang)​,​·​skeletanomalieën,​·​en,​·​variabeler,​·​osteopenie,​·​motorische·​ontwikkelingsachterst​and,​·​en·kromstand·​van·​ledematen.​·​Genspecifieke·​kenmerken,​·​met·​variabele·​presentatie,​·​worden·​bijkomend·​geobserveerd·bij·​elk·​subtype.​</​Contents>
534138 ············​</​TextSection>534272 ············​</​TextSection>
534139 ··········​</​TextSectionList>534273 ··········​</​TextSectionList>
534140 ········​</​SummaryInformation>534274 ········​</​SummaryInformation>
534198 ··············​<TextSectionType·​id="16907">534332 ··············​<TextSectionType·​id="16907">
534199 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>534333 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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534201 ··············​<Contents>Een·zeldzaam·subtype·​van·​spondylodysplastisch·​syndroom·​van·​Ehlers-​Danlos,​·​gekarakteriseerd·​door·​kleine·​gestalte,​·​variabele·​gradaties·​van·​spierhypotonie,​·​en·verkromming·​van·​ledematen.​·​Bijkomende·​kenmerken·​zijn·​onder·​meer·​typische·radiografische·bevindingen·​(zoals·platyspondylie,​·​anterieure·protrusie·​van·wervellichamen,​·korte·ilia,​·verbreding·van·metafysen,​·​en·gegeneraliseerde·osteoporose)​,​·​hyperelastische·huid,​·​zachte·en·deegachtige·huid,​·​dunne·​doorschijnende·huid,​·vertraagde·​motorische·​en/​of·​cognitieve·​ontwikkeling,​·kyfoscoliose,​·gewrichtshypermobilit​eit·(gegeneraliseerd·of·beperkt·tot·distale·gewrichten)​,​·typische·craniofaciale·kenmerken·(zoals·hypoplasie·​van·middengezicht,​·blauwe·sclerae,​·boller·voorhoofd,​·ingezakte·neusbrug,​·laagstaande·oren,​·micrognathie,​·abnormaal·gebit)​,​·​gewrichtscontracturen​,​·​aneurysma·​van·stijgende·​aorta,​·en·hypoplasie·van·long.​·Moleculair·testen·is·vereist·om·de·diagnose·te·bevestigen.​</​Contents>534335 ··············​<Contents>Een·vorm·​van·​spondylodysplastisch·​syndroom·​van·​Ehlers-​Danlos,​·veroorzaakt·door·varianten·in·&lt;​i&gt;​B3GALT6&lt;​/​i&gt;​·en·​gekarakteriseerd·​door·​kleine·​gestalte,​·​variabele·​gradaties·​van·​spierhypotonie,​·gewrichtshypermobilit​eit,​·vooral·van·de·handen,​·kromstand·​van·​ledematen,​·en·congenitale·of·vroeg·optredende,​·progressieve·kyfoscoliose.​·​Bijkomende·​kenmerken·​zijn·​onder·​meer·een·​typisch·craniofaciaal·uiterlijk·​(prominent·voorhoofd,​·schaars·haar,​·hypoplasie·​van·middengezicht,​·blauwe·sclerae,​·proptosis,​·​en·abnormale·dentitie)​,​·​hyperelastische,​·​zachte,​·​dunne,​·​doorschijnende·en·deegachtige·huid,​·​motorische·​en/​of·​cognitieve·​ontwikkelingsachterst​and,​·kenmerkende·radiografische·bevindingen·(spondylo-​epimetafysaire·dysplasie,​·platyspondylie,​·anterieure·'beak'·​van·wervellichaam,​·korte·ilia,​·standsafwijking·van·elleboog,​·en·gegeneraliseerde·osteoporose)​,​·​gewrichtscontracturen​,​·en·​aneurysma·​van·​aorta·​ascendens.​</​Contents>
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541451 ··············​<Contents>Een·​zeldzame·​partiele·​autosomale·​monosomie,​·​gekarakteriseerd·​door·​algehele·​ontwikkelingsachterst​and,​·​intellectuele·​achterstand,​·​multipele·​kraakbenige·​exostosen,​·​en·​craniofaciale·​anomalieën·​(zoals·​brachycefalie,​·​foramen·​biparietale,​·​grote·​fontanellen,​·​craniosynostose,​·​ptosis,​·​epicanthusplooien,​·​prominente·​neusbrug·​met·​brede·​en·​ingedrukte·​neuspunt,​·​hypoplastische·​neusgaten,​·​kort·​filtrum,​·​naar·​beneden·​gekeerde·​bovenlip,​·​en·​micrognathie)​.​·​Bijkomende·​kenmerken·​die·​werden·​gerapporteerd,​·​zijn·​onder·​meer·​gedragsafwijkingen,​·​myopie,​·​strabisme,​·​en·​sensorineuraal·​gehoorverlies.​</​Contents>
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541319 ····​</​Disorder>541456 ····​</​Disorder>
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544463 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
544464 ··········</​TextAuto>
544465 ········</​SummaryInformation>
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544467 ····​</​Disorder>544597 ····​</​Disorder>
544468 ····​<Disorder·​id="10592">544598 ····​<Disorder·​id="10592">
544676 ······​</​ExternalReferenceList​>544806 ······​</​ExternalReferenceList​>
544677 ······​<DisorderDisorderAsso​ciationList·​count="0">544807 ······​<DisorderDisorderAsso​ciationList·​count="0">
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544685 ··········</​TextAuto>
544686 ········</​SummaryInformation>
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544688 ····​</​Disorder>544811 ····​</​Disorder>
544689 ····​<Disorder·​id="10607">544812 ····​<Disorder·​id="10607">
547626 ······​</​ExternalReferenceList​>547749 ······​</​ExternalReferenceList​>
547627 ······​<DisorderDisorderAsso​ciationList·​count="0">547750 ······​<DisorderDisorderAsso​ciationList·​count="0">
547628 ······​</​DisorderDisorderAssoc​iationList>547751 ······​</​DisorderDisorderAssoc​iationList>
547629 ······​<SummaryInformationLi​st·​count="1">547752 ······​<SummaryInformationLi​st·​count="0">
547630 ········<SummaryInformation·id="-​1"·lang="nl">
547631 ··········<TextSectionList·count="0">
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547633 ··········<TextAuto>
547634 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
547635 ··········</​TextAuto>
547636 ········</​SummaryInformation>
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547638 ····​</​Disorder>547754 ····​</​Disorder>
547639 ····​<Disorder·​id="28123">547755 ····​<Disorder·​id="28123">
548597 ······​</​ExternalReferenceList​>548713 ······​</​ExternalReferenceList​>
548598 ······​<DisorderDisorderAsso​ciationList·​count="0">548714 ······​<DisorderDisorderAsso​ciationList·​count="0">
548599 ······​</​DisorderDisorderAssoc​iationList>548715 ······​</​DisorderDisorderAssoc​iationList>
548600 ······​<SummaryInformationLi​st·​count="1">548716 ······​<SummaryInformationLi​st·​count="0">
548601 ········<SummaryInformation·id="-​1"·lang="nl">
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548605 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
548606 ··········</​TextAuto>
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548609 ····​</​Disorder>548718 ····​</​Disorder>
548610 ····​<Disorder·​id="27249">548719 ····​<Disorder·​id="27249">
551858 ····​<Disorder·​id="11934">551967 ····​<Disorder·​id="11934">
551859 ······​<OrphaCode>90037</​OrphaCode>551968 ······​<OrphaCode>90037</​OrphaCode>
551860 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=90037</​ExpertLink>551969 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=90037</​ExpertLink>
551861 ······​<Name·​lang="nl">Geneesmidde​l-​geïnduceerde·​auto-​immune·​hemolytische·​anemie</​Name>551970 ······​<Name·​lang="nl">Geneesmidde​lgeïnduceerde·​auto-​immuun·​hemolytische·​anemie</​Name>
551862 ······​<DisorderFlagList·​count="1">551971 ······​<DisorderFlagList·​count="1">
551863 ········​<DisorderFlag·​id="475">551972 ········​<DisorderFlag·​id="475">
551864 ··········​<Value>1</​Value>551973 ··········​<Value>1</​Value>
551866 ········​</​DisorderFlag>551975 ········​</​DisorderFlag>
551867 ······​</​DisorderFlagList>551976 ······​</​DisorderFlagList>
551868 ······​<SynonymList·​count="1">551977 ······​<SynonymList·​count="1">
551869 ········​<Synonym·​lang="nl">Geneesmidde​l-​geïnduceerde·​AIHA</​Synonym>551978 ········​<Synonym·​lang="nl">Geneesmidde​lgeïnduceerde·​AIHA</​Synonym>
551870 ······​</​SynonymList>551979 ······​</​SynonymList>
551871 ······​<DisorderType·​id="21394">551980 ······​<DisorderType·​id="21394">
551872 ········​<Name·​lang="nl">Ziekte</​Name>551981 ········​<Name·​lang="nl">Ziekte</​Name>
552016 ········​</​DisorderFlag>552125 ········​</​DisorderFlag>
552017 ······​</​DisorderFlagList>552126 ······​</​DisorderFlagList>
552018 ······​<SynonymList·​count="3">552127 ······​<SynonymList·​count="3">
552019 ········​<Synonym·​lang="nl">Donath-​Landsteiner·hemolytische·anemie</​Synonym>552128 ········​<Synonym·​lang="nl">Hemolytisch​e·anemie·van·Donath-​Landsteiner</​Synonym>
552020 ········<Synonym·lang="nl">Donath-​Landsteinersyndroom</​Synonym>
552021 ········​<Synonym·​lang="nl">PCH</​Synonym>552129 ········​<Synonym·​lang="nl">PCH</​Synonym>
552130 ········​<Synonym·​lang="nl">Syndroom·​van·​Donath-​Landsteiner</​Synonym>
552022 ······​</​SynonymList>552131 ······​</​SynonymList>
552023 ······​<DisorderType·​id="21394">552132 ······​<DisorderType·​id="21394">
552024 ········​<Name·​lang="nl">Ziekte</​Name>552133 ········​<Name·​lang="nl">Ziekte</​Name>
552157 ····​<Disorder·​id="11933">552266 ····​<Disorder·​id="11933">
552158 ······​<OrphaCode>90036</​OrphaCode>552267 ······​<OrphaCode>90036</​OrphaCode>
552159 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=90036</​ExpertLink>552268 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=90036</​ExpertLink>
552160 ······​<Name·​lang="nl">Auto-​immune·​hemolytische·​anemie·van·het·​gemengde·​type</​Name>552269 ······​<Name·​lang="nl">Auto-​immuun·​hemolytische·​anemie,​·​gemengd·​type</​Name>
552161 ······​<DisorderFlagList·​count="1">552270 ······​<DisorderFlagList·​count="1">
552162 ········​<DisorderFlag·​id="475">552271 ········​<DisorderFlag·​id="475">
552163 ··········​<Value>1</​Value>552272 ··········​<Value>1</​Value>
552331 ····​<Disorder·​id="11931">552440 ····​<Disorder·​id="11931">
552332 ······​<OrphaCode>90033</​OrphaCode>552441 ······​<OrphaCode>90033</​OrphaCode>
552333 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=90033</​ExpertLink>552442 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=90033</​ExpertLink>
552334 ······​<Name·​lang="nl">Auto-​immune·​hemolytische·​anemie,​·​warm·​type</​Name>552443 ······​<Name·​lang="nl">Auto-​immuun·​hemolytische·​anemie,​·​warm·​type</​Name>
552335 ······​<DisorderFlagList·​count="1">552444 ······​<DisorderFlagList·​count="1">
552336 ········​<DisorderFlag·​id="475">552445 ········​<DisorderFlag·​id="475">
552337 ··········​<Value>1</​Value>552446 ··········​<Value>1</​Value>
553224 ··········​<Label>Obsolete·​entity</​Label>553333 ··········​<Label>Obsolete·​entity</​Label>
553225 ········​</​DisorderFlag>553334 ········​</​DisorderFlag>
553226 ······​</​DisorderFlagList>553335 ······​</​DisorderFlagList>
553227 ······​<SynonymList·​count="4">553336 ······​<SynonymList·​count="3">
553228 ········​<Synonym·​lang="nl">Centripetal​e·​dystrofische·​epidermolysis·​bullosa</​Synonym>553337 ········​<Synonym·​lang="nl">Centripetal​e·​dystrofische·​epidermolysis·​bullosa</​Synonym>
553229 ········​<Synonym·​lang="nl">Centripetal​e·​recessieve·​dystrofische·​epidermolysis·​bullosa</​Synonym>553338 ········​<Synonym·​lang="nl">Centripetal​e·​recessieve·​dystrofische·​epidermolysis·​bullosa</​Synonym>
553230 ········​<Synonym·​lang="nl">RDEB,​·​centripetalis</​Synonym>553339 ········​<Synonym·​lang="nl">RDEB,​·​centripetalis</​Synonym>
553231 ········​<Synonym·​lang="nl">RDEB-​Ce</​Synonym>
553232 ······​</​SynonymList>553340 ······​</​SynonymList>
553233 ······​<DisorderType·​id="21394">553341 ······​<DisorderType·​id="21394">
553234 ········​<Name·​lang="nl">Ziekte</​Name>553342 ········​<Name·​lang="nl">Ziekte</​Name>
554278 ····​<Disorder·​id="12020">554386 ····​<Disorder·​id="12020">
554279 ······​<OrphaCode>90342</​OrphaCode>554387 ······​<OrphaCode>90342</​OrphaCode>
554280 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=90342</​ExpertLink>554388 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=90342</​ExpertLink>
554281 ······​<Name·​lang="nl">Xeroderma·​pigmentosum·​variant</​Name>554389 ······​<Name·​lang="nl">Xeroderma·​pigmentosum,​·​variante·vorm</​Name>
554282 ······​<DisorderFlagList·​count="1">554390 ······​<DisorderFlagList·​count="1">
554283 ········​<DisorderFlag·​id="475">554391 ········​<DisorderFlag·​id="475">
554284 ··········​<Value>1</​Value>554392 ··········​<Value>1</​Value>
557387 ······​</​ExternalReferenceList​>557495 ······​</​ExternalReferenceList​>
557388 ······​<DisorderDisorderAsso​ciationList·​count="0">557496 ······​<DisorderDisorderAsso​ciationList·​count="0">
557389 ······​</​DisorderDisorderAssoc​iationList>557497 ······​</​DisorderDisorderAssoc​iationList>
557390 ······​<SummaryInformationLi​st·​count="1">557498 ······​<SummaryInformationLi​st·​count="0">
557391 ········<SummaryInformation·id="-​1"·lang="nl">
557392 ··········<TextSectionList·count="0">
557393 ··········</​TextSectionList>
557394 ··········<TextAuto>
557395 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
557396 ··········</​TextAuto>
557397 ········</​SummaryInformation>
557398 ······​</​SummaryInformationLis​t>557499 ······​</​SummaryInformationLis​t>
557399 ····​</​Disorder>557500 ····​</​Disorder>
557400 ····​<Disorder·​id="11981">557501 ····​<Disorder·​id="11981">
557877 ······​</​ExternalReferenceList​>557978 ······​</​ExternalReferenceList​>
557878 ······​<DisorderDisorderAsso​ciationList·​count="0">557979 ······​<DisorderDisorderAsso​ciationList·​count="0">
557879 ······​</​DisorderDisorderAssoc​iationList>557980 ······​</​DisorderDisorderAssoc​iationList>
557880 ······​<SummaryInformationLi​st·​count="1">557981 ······​<SummaryInformationLi​st·​count="0">
557881 ········<SummaryInformation·id="-​1"·lang="nl">
557882 ··········<TextSectionList·count="0">
557883 ··········</​TextSectionList>
557884 ··········<TextAuto>
557885 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
557886 ··········</​TextAuto>
557887 ········</​SummaryInformation>
557888 ······​</​SummaryInformationLis​t>557982 ······​</​SummaryInformationLis​t>
557889 ····​</​Disorder>557983 ····​</​Disorder>
557890 ····​<Disorder·​id="27378">557984 ····​<Disorder·​id="27378">
559375 ········​<DisorderDisorderAsso​ciation>559469 ········​<DisorderDisorderAsso​ciation>
559376 ··········​<TargetDisorder·​id="12138">559470 ··········​<TargetDisorder·​id="12138">
559377 ············​<OrphaCode>91387</​OrphaCode>559471 ············​<OrphaCode>91387</​OrphaCode>
559378 ············​<Name·​lang="nl">Familiaal·​thoracaal·aorta-​aneurysma</​Name>559472 ············​<Name·​lang="nl">Familiale·dissectie·en·aneurysma·van·thoracale·aorta</​Name>
559379 ··········​</​TargetDisorder>559473 ··········​</​TargetDisorder>
559380 ··········​<RootDisorder·​id="11815"·​cycle="true"/​>559474 ··········​<RootDisorder·​id="11815"·​cycle="true"/​>
559381 ··········​<DisorderDisorderAsso​ciationType·​id="21471">559475 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
559967 ······​</​DisorderFlagList>560061 ······​</​DisorderFlagList>
559968 ······​<SynonymList·​count="2">560062 ······​<SynonymList·​count="2">
559969 ········​<Synonym·​lang="nl">ADANE</​Synonym>560063 ········​<Synonym·​lang="nl">ADANE</​Synonym>
559970 ········​<Synonym·​lang="nl">Terugkerend​e·​acute·​necrotiserende·​encefalopathie</​Synonym>560064 ········​<Synonym·​lang="nl">Recidiveren​de·​acute·​necrotiserende·​encefalopathie</​Synonym>
559971 ······​</​SynonymList>560065 ······​</​SynonymList>
559972 ······​<DisorderType·​id="21394">560066 ······​<DisorderType·​id="21394">
559973 ········​<Name·​lang="nl">Ziekte</​Name>560067 ········​<Name·​lang="nl">Ziekte</​Name>
564899 ····​<Disorder·​id="12199">564993 ····​<Disorder·​id="12199">
564900 ······​<OrphaCode>93256</​OrphaCode>564994 ······​<OrphaCode>93256</​OrphaCode>
564901 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=93256</​ExpertLink>564995 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=93256</​ExpertLink>
564902 ······​<Name·​lang="nl">Fragiele·X-​geassocieerd·​tremor/​ataxie-​syndroom</​Name>564996 ······​<Name·​lang="nl">Fragiele-​X-​geassocieerd·​tremor/​ataxie-​syndroom</​Name>
564903 ······​<DisorderFlagList·​count="1">564997 ······​<DisorderFlagList·​count="1">
564904 ········​<DisorderFlag·​id="475">564998 ········​<DisorderFlag·​id="475">
564905 ··········​<Value>1</​Value>564999 ··········​<Value>1</​Value>
566275 ··············​<TextSectionType·​id="16907">566369 ··············​<TextSectionType·​id="16907">
566276 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>566370 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
566277 ··············​</​TextSectionType>566371 ··············​</​TextSectionType>
566278 ··············​<Contents>Korte·rib·-​·polydactylie-​syndroom,​·Verma-​Naumoff-​type,​·is·​een·korte·rib·-​·polydactylie-​syndroom·dat·​gekarakteriseerd·wordt·door·dwerggroei·​met·korte·ledematen,​·korte·ribben·​met·thoracale·dysplasie,​·postaxiale·polydactylie·en·vooruitstekend·​abdomen.​·Geassocieerde·​meervoudige·malformaties·​zijn·onder·meer·cardiovasculaire·​defecten,​·renale·agenesie/​hypoplasie,​·abnormale·​ontwikkeling·​van·de·cloaca·(ambigue·genitaliën,​·anusatresie)​·en·cerebellaire·hypoplasie.​·Korte·rib·-​·​polydactylie-​syndroom,​·Verma-​Naumoff-​type·volgt·een·autosomaal·recessief·overervingspatroon.​·De·ziekte·​is·meestal·fataal·in·de·​perinatale·​periode.​</​Contents>566372 ··············​<Contents>Een·zeldzame·ciliopathie·et·​ernstige·​betrokkenheid·van·skelet,​·​gekarakteriseerd·door·korte·ribben·en·extreem·smalle·thorax,​·ernstig·verkorte·pijpbeenderen·​met·ronde·metafysaire·uiteinden·en·laterale·spikes,​·en·​anomalieën·van·​meerdere·​organen·​zoals·hart,​·nier,​·lever,​·pancreas,​·​darm,​·​en·​geslachtsorganen,​·met·soms·​optreden·​van·situs·inversus·totalis.​·Gespleten·​lip/​verhemelte·en·​polydactylie·kunnen·​ook·aanwezig·zijn.​·Het·syndroom·is·fataal·​in·de·prenatale·of·​perinatale·​periode.​</​Contents>
566279 ············​</​TextSection>566373 ············​</​TextSection>
566280 ··········​</​TextSectionList>566374 ··········​</​TextSectionList>
566281 ········​</​SummaryInformation>566375 ········​</​SummaryInformation>
566450 ··············​<TextSectionType·​id="16907">566544 ··············​<TextSectionType·​id="16907">
566451 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>566545 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
566452 ··············​</​TextSectionType>566546 ··············​</​TextSectionType>
566453 ··············​<Contents>Korte·rib·-​·polydactylie-​syndroom·(SRPS)​,​·Saldino-​Noonan-​type,​·is·een·uiterst·zeldzaam·type·​van·SRPS·met·neonatale·aanvang,​·en·wordt·​gekarakteriseerd·​door·polydactylie,​·hydropisch·uiterlijk,​·en·kleine·borstkas·met·​korte·horizontale·ribben·die·fatale·cardiorespiratoire·problemen·veroorzaken.​·Getroffen·patiënten·hebben·ook·extreme·micromelie,​·puntige·metafysen,​·en·een·waaier·aan·andere·defecten·van·de·ossificatie·(wervels·​en·​botten·​van·​de·schedel,​·het·bekken,​·de·handen·en·de·voeten)​.​·Mogelijke·extraskeletale·manifestaties·zijn·onder·meer·​polycystische·​nieren,​·​transpositie·​van·de·​grote·​bloedvaten,​·​en·​atresie·van·de·​gastro-​intestinale·​en·​urogenitale·​stelsels.​</​Contents>566547 ··············​<Contents>Een·zeldzame·ciliopathie·met·sterke·betrokkenheid·​van·skelet,​·​gekarakteriseerd·​door·korte·​ribben·en·extreem·smalle·thorax,​·zeer·​korte·ledematen,​·afwezige·of·zeer·kleine·fibulae,​·ernstige·metafysaire·dysplasie·van·pijpbeenderen,​·postaxiale·polydactylie,​·en·gebrekkige·ossificatie·in·schedeldak,​·wervels,​·bekken,​·​en·​botten·​van·handen·en·voeten.​·Congenitale·​anomalieën·van·meerdere·andere·organen·werden·ook·reeds·beschreven,​·zoals·​polycystische·​nieren,​·​transpositie·​van·​grote·​bloedvaten,​·​en·​atretische·laesies·van·​gastro-​intestinaal·​en·​urogenitaal·stelsel.​·Mogelijk·wordt·hydrops·foetalis·waargenomen·op·vroege·gestatieleeftijd.​</​Contents>
566454 ············​</​TextSection>566548 ············​</​TextSection>
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566595 ··············​<Contents>Korte·rib·-​·polydactylie-​syndroom·(SRPS)​,​·Beemer-​Langer-​type,​·is·een·uiterst·zeldzaam·type·van·SRPS·​dat·prenataal·of·onmiddellijk·na·de·geboorte·ontwikkelt,​·en·dat·gekarakteriseerd·wordt·door·​korte·en·smalle·borstkas·​met·horizontaal·georiënteerde·​ribben.​·Andere·botkenmerken·zijn·onder·meer·kleine·darmbeenderen,​·korte·tubulaire·botten,​·buiging·van·pijpbeenderen·en·in·zeldzame·gevallen·pre-​·en·​postaxiale·​polydactylie.​·Defecten·aan·de·hersenen·zijn·gangbaar·en·er·werden·enkele·gevallen·​met·​gespleten·​lip,​·​afwezigheid·​van·​inwendige·​genitaliën,​·en·renale,​·biliaire·​en·pancreatische·​cysten·gerapporteerd.​·Het·verloop·is·snel·fataal.​</​Contents>566689 ··············​<Contents>Een·zeldzame·ciliopathie·met·prominente·betrokkenheid·van·skelet,​·gekarakteriseerd·​door·korte·ribben·​en·hypoplastische·​thorax,​·kleine·darmbeenderen,​·​korte·pijpbeenderen·​met·gladde·metafysaire·​randen,​·en·kromstand·van·radii·en·ulnae.​·De·tibiae·zijn·relatief·buisvormig·en·langer·dan·de·fibulae.​·Hersendefecten·komen·vaak·​voor,​·terwijl·​postaxiale·​polydactylie·zeldzaam·is.​·Mogelijke·bijkomende·kenmerken·zijn·onder·​meer·​gespleten·​lip,​·​afwezigheid·​van·​inwendige·​geslachtsorganen,​·​en·​cysten·van·nier,​·galwegen·en·pancreas.​</​Contents>
566596 ············​</​TextSection>566690 ············​</​TextSection>
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573269 ······​<Name·​lang="nl">Dermoïd-​·​of·​epidermoïdcyste·​van·het·​centrale·​zenuwstelsel</​Name>573363 ······​<Name·​lang="nl">Dermoïd-​·​of·​epidermoïdcyste·​van·​centraal·​zenuwstelsel</​Name>
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573390 ··············​<Contents>Een·​zeldzame·​congenitale·​tumor,​·​gekarakteriseerd·​door·​een·​goedaardige·​cyste·​met·​epitheliale·​en·​epidermoïde·​componenten,​·​afkomstig·​van·​embryonale·​verplaatsing·​en·​ectopische·​groei·​van·​ectodermaal·​weefsel·​in·​het·​centrale·​zenuwstelsel.​·​In·​tegenstelling·​tot·​epidermoïdcysten·​bevatten·​dermoïdcysten·​ook·​adnexen·​van·​dermis·​en·​huid.​·​De·​meest·​gangbare·​locatie·​is·​de·​lumbosacrale·​regio,​·​alsook·​de·​angulus·​pontocerebellaris·​(brughoek)​·​en·​het·​parasellaire·​gebied·​voor·​intracraniële·​laesies.​·​De·​klinische·​presentatie·​hangt·​af·​van·​de·​locatie·​en·​de·​omvang·​van·​de·​tumor,​·​en·​omvat·​pijn,​·​spierzwakte,​·​motorische·​en·​sensorische·​stoornissen,​·​en·​incontinentie·​voor·​intraspinale·​laesies,​·​en·​intracraniële·​hypertensie,​·​gangstoornissen,​·​disfunctie·​van·​hersenzenuwen,​·​en·​visuele·​stoornissen·​voor·​intracraniële·​tumoren.​·​De·​cysten·​kunnen·​scheuren·​en·​chemische·​meningitis·​veroorzaken.​</​Contents>
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577110 ······​<DisorderType·​id="21394">577214 ······​<DisorderType·​id="21394">
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580726 ········<Synonym·lang="nl">Gedeeltelij​ke·AOS</​Synonym>
580727 ········​<Synonym·​lang="nl">PAIS</​Synonym>580830 ········​<Synonym·​lang="nl">PAIS</​Synonym>
580728 ········​<Synonym·​lang="nl">Partiële·​androgeeninsensitivei​tssyndroom</​Synonym>580831 ········​<Synonym·​lang="nl">Partieel·​androgeenresistenties​yndroom</​Synonym>
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581377 ······​<Name·​lang="nl">Hyperlaxite​it·​van·de·lichaamshuid·​door·​deficiëntie·​van·​vitamine·​K-​afhankelijke·​coagulatiefactor</​Name>581472 ······​<Name·​lang="nl">Hyperlaxite​it·​van·​huid·​door·​deficiëntie·​van·​vitamine·​K-​afhankelijke·​coagulatiefactor</​Name>
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585302 ··············​<Contents>Oculocutaan​·albinisme·type·4·(OCA4)​·is·een·type·OCA·(zie·deze·term)​·dat·wordt·​gekarakteriseerd·​door·wisselende·​gradaties·​van·​hypopigmentatie·​van·de·​huid·​en·het·​haar,​·​talrijke·​oculaire·​veranderingen·​en·​een·​verkeerd·​verloop·​van·​de·gezichtszenuwen·​ter·​hoogte·​van·​het·​chiasma.​</​Contents>585390 ··············​<Contents>Een·vorm·van·oculocutaan·albinisme·(OCA)​,​·​gekarakteriseerd·​door·variabele·​gradaties·​van·​hypopigmentatie·​van·​huid·​en·​haar,​·​talrijke·​oculaire·​veranderingen,​·​en·​een·​verkeerd·​verloop·​van·​de·oogzenuwen·​ter·​hoogte·​van·​het·​chiasma.​</​Contents>
585303 ············​</​TextSection>585391 ············​</​TextSection>
585304 ··········​</​TextSectionList>585392 ··········​</​TextSectionList>
585305 ········​</​SummaryInformation>585393 ········​</​SummaryInformation>
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585398 ··············​<Contents>Oculocutaan​·​albinisme·​type·​1B·​(OCA1B)​·is·een·type·OCA1·(zie·deze·term)​·dat·wordt·​gekarakteriseerd·​door·​hypopigmentatie·​van·de·​huid·​en·het·​haar,​·​nystagmus,​·​een·​gereduceerde·​hoeveelheid·​pigment·​in·het·regenboogvlies·​en·het·netvlies,​·​en·​een·​verkeerd·​verloop·​van·​de·gezichtszenuwen.​</​Contents>585486 ··············​<Contents>Een·vorm·van·oculocutaan·​albinisme·​type·​1·​(OCA1)​,​·​gekarakteriseerd·​door·​hypopigmentatie·​van·​huid·​en·​haar,​·​nystagmus,​·​een·​gereduceerde·​hoeveelheid·​pigment·​in·iris·​en·retina,​·​en·​een·​verkeerd·​verloop·​van·​de·oogzenuwen.​</​Contents>
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585526 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>585614 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
585527 ··············​</​TextSectionType>585615 ··············​</​TextSectionType>
585528 ··············​<Contents>Oculocutaan​·albinisme·type·3·(OCA3)​·is·een·​vorm·​van·​oculocutaan·​albinisme·​(OCA;​·zie·deze·term)​·die·wordt·​gekarakteriseerd·​door·​rood·​of·​bruin·​albinisme·​en·​vooral·voorkomt·​in·​de·​Afrikaanse·​populatie.​</​Contents>585616 ··············​<Contents>Een·​vorm·​van·​oculocutaan·​albinisme·​(OCA)​,​·​gekarakteriseerd·​door·​rood·​of·​bruin·​albinisme·​en·​vooral·optredend·​in·​de·​Afrikaanse·​populatie.​</​Contents>
585529 ············​</​TextSection>585617 ············​</​TextSection>
585530 ··········​</​TextSectionList>585618 ··········​</​TextSectionList>
585531 ········​</​SummaryInformation>585619 ········​</​SummaryInformation>
585619 ··············​<TextSectionType·​id="16907">585707 ··············​<TextSectionType·​id="16907">
585620 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>585708 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
585621 ··············​</​TextSectionType>585709 ··············​</​TextSectionType>
585622 ··············​<Contents>Oculocutaan​·albinisme·type·2·(OCA2)​·is·een·type·OCA·(zie·deze·term)​·en·de·meest·voorkomende·​vorm·​van·OCA·in·de·Afrikaanse·populatie,​·en·wordt·​gekarakteriseerd·​door·​variabele·​hypopigmentatie·​van·de·​huid·​en·het·​haar,​·​talrijke·kenmerkende·​oculaire·​veranderingen·​en·​een·​verkeerd·​verloop·​van·​de·gezichtszenuw·​ter·​hoogte·​van·​het·​chiasma.​</​Contents>585710 ··············​<Contents>Een·​vorm·​van·oculocutaan·albinisme·(OCA)​,​·​gekarakteriseerd·​door·​variabele·​hypopigmentatie·​van·​huid·​en·​haar,​·​talrijke·typische·​oculaire·​veranderingen,​·​en·​een·​verkeerd·​verloop·​van·​de·oogzenuwen·​ter·​hoogte·​van·​het·​chiasma.​</​Contents>
585623 ············​</​TextSection>585711 ············​</​TextSection>
585624 ··········​</​TextSectionList>585712 ··········​</​TextSectionList>
585625 ········​</​SummaryInformation>585713 ········​</​SummaryInformation>
585681 ··············​<TextSectionType·​id="16907">585769 ··············​<TextSectionType·​id="16907">
585682 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>585770 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
585683 ··············​</​TextSectionType>585771 ··············​</​TextSectionType>
585684 ··············​<Contents>Oculocutaan​·​albinisme·​type·​1A·​(OCA1A)​·is·de·ergste·vorm·van·OCA·(zie·deze·term)​,​·waarbij·geen·​melanine·wordt·aangemaakt,​·en·wordt·gekarakteriseerd·door·​wit·​haar·​en·​witte·​huid,​·​blauwe,​·​volledig·​doorschijnende·​irissen,​·​nystagmus,​·​en·​verkeerd·​verloop·​van·​de·gezichtszenuwen.​</​Contents>585772 ··············​<Contents>Een·ernstige·vorm·van·oculocutaan·​albinisme·​type·​1·​(OCA1)​,​·gekarakteriseerd·door·volledige·afwezigheid·van·​melanine·en·zich·manifesterend·als·​wit·​haar·​en·​witte·​huid,​·​blauwe·en·​volledig·​doorschijnende·​irissen,​·​nystagmus·​en·​verkeerd·​verloop·​van·​de·oogzenuwen.​</​Contents>
585685 ············​</​TextSection>585773 ············​</​TextSection>
585686 ··········​</​TextSectionList>585774 ··········​</​TextSectionList>
585687 ········​</​SummaryInformation>585775 ········​</​SummaryInformation>
587786 ······​<SynonymList·​count="5">587874 ······​<SynonymList·​count="5">
587787 ········​<Synonym·​lang="nl">ANCL</​Synonym>587875 ········​<Synonym·​lang="nl">ANCL</​Synonym>
587788 ········​<Synonym·​lang="nl">Adulte·​NCL</​Synonym>587876 ········​<Synonym·​lang="nl">Adulte·​NCL</​Synonym>
587877 ········​<Synonym·​lang="nl">Neuronale·​ceroïdlipofuscinose·​bij·​volwassene</​Synonym>
587789 ········​<Synonym·​lang="nl">Volwassen·​NCL</​Synonym>587878 ········​<Synonym·​lang="nl">Volwassen·​NCL</​Synonym>
587790 ········​<Synonym·​lang="nl">Volwassen·​neuronale·​ceroïdlipofuscinose</​Synonym>
587791 ········​<Synonym·​lang="nl">Ziekte·​van·​Kufs</​Synonym>587879 ········​<Synonym·​lang="nl">Ziekte·​van·​Kufs</​Synonym>
587792 ······​</​SynonymList>587880 ······​</​SynonymList>
587793 ······​<DisorderType·​id="21394">587881 ······​<DisorderType·​id="21394">
589581 ····​<Disorder·​id="11327">589669 ····​<Disorder·​id="11327">
589582 ······​<OrphaCode>79301</​OrphaCode>589670 ······​<OrphaCode>79301</​OrphaCode>
589583 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79301</​ExpertLink>589671 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79301</​ExpertLink>
589584 ······​<Name·​lang="nl">Congenitaal​·​galzuursynthesedefect​·​type·​1</​Name>589672 ······​<Name·​lang="nl">Congenitaal​·defect·van·​galzuursynthese·​type·​1</​Name>
589585 ······​<DisorderFlagList·​count="1">589673 ······​<DisorderFlagList·​count="1">
589586 ········​<DisorderFlag·​id="475">589674 ········​<DisorderFlag·​id="475">
589587 ··········​<Value>1</​Value>589675 ··········​<Value>1</​Value>
589589 ········​</​DisorderFlag>589677 ········​</​DisorderFlag>
589590 ······​</​DisorderFlagList>589678 ······​</​DisorderFlagList>
589591 ······​<SynonymList·​count="2">589679 ······​<SynonymList·​count="2">
589592 ········​<Synonym·​lang="nl">3-​bèta-​hydroxy-​delta-​5-​C27-​steroïd-​oxidoreductasedeficië​ntie</​Synonym>
589593 ········​<Synonym·​lang="nl">BASD1</​Synonym>589680 ········​<Synonym·​lang="nl">BASD1</​Synonym>
589681 ········​<Synonym·​lang="nl">Deficiëntie​·​van·​3-​bèta-​hydroxy-​delta-​5-​C27-​steroïd-​oxidoreductase</​Synonym>
589594 ······​</​SynonymList>589682 ······​</​SynonymList>
589595 ······​<DisorderType·​id="21394">589683 ······​<DisorderType·​id="21394">
589596 ········​<Name·​lang="nl">Ziekte</​Name>589684 ········​<Name·​lang="nl">Ziekte</​Name>
590022 ····​<Disorder·​id="11305">590110 ····​<Disorder·​id="11305">
590023 ······​<OrphaCode>79279</​OrphaCode>590111 ······​<OrphaCode>79279</​OrphaCode>
590024 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79279</​ExpertLink>590112 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79279</​ExpertLink>
590025 ······​<Name·​lang="nl">Alfa-​N-​acetylgalactosaminida​sedeficiëntie·​type·​1</​Name>590113 ······​<Name·​lang="nl">Deficiëntie​·van·alfa-​N-​acetylgalactosaminida​se·​type·​1</​Name>
590026 ······​<DisorderFlagList·​count="1">590114 ······​<DisorderFlagList·​count="1">
590027 ········​<DisorderFlag·​id="475">590115 ········​<DisorderFlag·​id="475">
590028 ··········​<Value>1</​Value>590116 ··········​<Value>1</​Value>
590105 ····​<Disorder·​id="11306">590193 ····​<Disorder·​id="11306">
590106 ······​<OrphaCode>79280</​OrphaCode>590194 ······​<OrphaCode>79280</​OrphaCode>
590107 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79280</​ExpertLink>590195 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79280</​ExpertLink>
590108 ······​<Name·​lang="nl">Alfa-​N-​acetylgalactosaminida​sedeficiëntie·​type·​2</​Name>590196 ······​<Name·​lang="nl">Deficiëntie​·van·alfa-​N-​acetylgalactosaminida​se·​type·​2</​Name>
590109 ······​<DisorderFlagList·​count="1">590197 ······​<DisorderFlagList·​count="1">
590110 ········​<DisorderFlag·​id="475">590198 ········​<DisorderFlag·​id="475">
590111 ··········​<Value>1</​Value>590199 ··········​<Value>1</​Value>
590113 ········​</​DisorderFlag>590201 ········​</​DisorderFlag>
590114 ······​</​DisorderFlagList>590202 ······​</​DisorderFlagList>
590115 ······​<SynonymList·​count="4">590203 ······​<SynonymList·​count="4">
590116 ········​<Synonym·​lang="nl">Alfa-​N-​acetylgalactosaminida​sedeficiëntie,​·​aanvang·op·​volwassen·leeftijd</​Synonym>590204 ········​<Synonym·​lang="nl">Deficiëntie​·van·alfa-​N-​acetylgalactosaminida​se·met·​aanvang·in·de·​volwassenheid</​Synonym>
590117 ········​<Synonym·​lang="nl">NAGA-​deficiëntie·​type·​2</​Synonym>590205 ········​<Synonym·​lang="nl">NAGA-​deficiëntie·​type·​2</​Synonym>
590118 ········​<Synonym·​lang="nl">Ziekte·​van·​Kanzaki</​Synonym>590206 ········​<Synonym·​lang="nl">Ziekte·​van·​Kanzaki</​Synonym>
590119 ········​<Synonym·​lang="nl">Ziekte·​van·​Schindler·​type·​2</​Synonym>590207 ········​<Synonym·​lang="nl">Ziekte·​van·​Schindler·​type·​2</​Synonym>
590190 ····​<Disorder·​id="11307">590278 ····​<Disorder·​id="11307">
590191 ······​<OrphaCode>79281</​OrphaCode>590279 ······​<OrphaCode>79281</​OrphaCode>
590192 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79281</​ExpertLink>590280 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79281</​ExpertLink>
590193 ······​<Name·​lang="nl">Alfa-​N-​acetylgalactosaminida​sedeficiëntie·​type·​3</​Name>590281 ······​<Name·​lang="nl">Deficiëntie​·van·alfa-​N-​acetylgalactosaminida​se·​type·​3</​Name>
590194 ······​<DisorderFlagList·​count="1">590282 ······​<DisorderFlagList·​count="1">
590195 ········​<DisorderFlag·​id="475">590283 ········​<DisorderFlag·​id="475">
590196 ··········​<Value>1</​Value>590284 ··········​<Value>1</​Value>
592351 ····​<Disorder·​id="11342">592439 ····​<Disorder·​id="11342">
592352 ······​<OrphaCode>79316</​OrphaCode>592440 ······​<OrphaCode>79316</​OrphaCode>
592353 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79316</​ExpertLink>592441 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79316</​ExpertLink>
592354 ······​<Name·​lang="nl">OBSOLEET:​·Fosfo-​enolpyruvaatcarboxyki​nase·​1-​deficiëntie</​Name>592442 ······​<Name·​lang="nl">OBSOLEET:​·Deficiëntie·van·fosfo-​enolpyruvaat-​carboxykinase·​1</​Name>
592355 ······​<DisorderFlagList·​count="2">592443 ······​<DisorderFlagList·​count="2">
592356 ········​<DisorderFlag·​id="495">592444 ········​<DisorderFlag·​id="495">
592357 ··········​<Value>8192</​Value>592445 ··········​<Value>8192</​Value>
592377 ········​<DisorderDisorderAsso​ciation>592465 ········​<DisorderDisorderAsso​ciation>
592378 ··········​<TargetDisorder·​id="3374">592466 ··········​<TargetDisorder·​id="3374">
592379 ············​<OrphaCode>2880</​OrphaCode>592467 ············​<OrphaCode>2880</​OrphaCode>
592380 ············​<Name·​lang="nl">Fosfo-​enolpyruvaat-​carboxykinasedeficiën​tie</​Name>592468 ············​<Name·​lang="nl">Deficiëntie​·van·fosfo-​enolpyruvaat-​carboxykinase</​Name>
592381 ··········​</​TargetDisorder>592469 ··········​</​TargetDisorder>
592382 ··········​<RootDisorder·​id="11342"·​cycle="true"/​>592470 ··········​<RootDisorder·​id="11342"·​cycle="true"/​>
592383 ··········​<DisorderDisorderAsso​ciationType·​id="27341">592471 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
592398 ····​<Disorder·​id="11343">592486 ····​<Disorder·​id="11343">
592399 ······​<OrphaCode>79317</​OrphaCode>592487 ······​<OrphaCode>79317</​OrphaCode>
592400 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79317</​ExpertLink>592488 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79317</​ExpertLink>
592401 ······​<Name·​lang="nl">OBSOLEET:​·Fosfo-​enolpyruvaatcarboxyki​nase·​2-​deficiëntie</​Name>592489 ······​<Name·​lang="nl">OBSOLEET:​·Deficiëntie·van·fosfo-​enolpyruvaat-​carboxykinase·​2</​Name>
592402 ······​<DisorderFlagList·​count="2">592490 ······​<DisorderFlagList·​count="2">
592403 ········​<DisorderFlag·​id="495">592491 ········​<DisorderFlag·​id="495">
592404 ··········​<Value>8192</​Value>592492 ··········​<Value>8192</​Value>
592424 ········​<DisorderDisorderAsso​ciation>592512 ········​<DisorderDisorderAsso​ciation>
592425 ··········​<TargetDisorder·​id="3374">592513 ··········​<TargetDisorder·​id="3374">
592426 ············​<OrphaCode>2880</​OrphaCode>592514 ············​<OrphaCode>2880</​OrphaCode>
592427 ············​<Name·​lang="nl">Fosfo-​enolpyruvaat-​carboxykinasedeficiën​tie</​Name>592515 ············​<Name·​lang="nl">Deficiëntie​·van·fosfo-​enolpyruvaat-​carboxykinase</​Name>
592428 ··········​</​TargetDisorder>592516 ··········​</​TargetDisorder>
592429 ··········​<RootDisorder·​id="11343"·​cycle="true"/​>592517 ··········​<RootDisorder·​id="11343"·​cycle="true"/​>
592430 ··········​<DisorderDisorderAsso​ciationType·​id="27341">592518 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
593101 ····​<Disorder·​id="11328">593189 ····​<Disorder·​id="11328">
593102 ······​<OrphaCode>79302</​OrphaCode>593190 ······​<OrphaCode>79302</​OrphaCode>
593103 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79302</​ExpertLink>593191 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79302</​ExpertLink>
593104 ······​<Name·​lang="nl">Congenitaal​·​galzuursynthesedefect​·​type·​3</​Name>593192 ······​<Name·​lang="nl">Congenitaal​·defect·van·​galzuursynthese·​type·​3</​Name>
593105 ······​<DisorderFlagList·​count="1">593193 ······​<DisorderFlagList·​count="1">
593106 ········​<DisorderFlag·​id="475">593194 ········​<DisorderFlag·​id="475">
593107 ··········​<Value>1</​Value>593195 ··········​<Value>1</​Value>
593110 ······​</​DisorderFlagList>593198 ······​</​DisorderFlagList>
593111 ······​<SynonymList·​count="2">593199 ······​<SynonymList·​count="2">
593112 ········​<Synonym·​lang="nl">BASD3</​Synonym>593200 ········​<Synonym·​lang="nl">BASD3</​Synonym>
593113 ········​<Synonym·​lang="nl">Oxysterol·​7-​alfa-​hydroxylasedeficiënti​e</​Synonym>593201 ········​<Synonym·​lang="nl">Deficiëntie​·van·oxysterol·​7-​alfa-​hydroxylase</​Synonym>
593114 ······​</​SynonymList>593202 ······​</​SynonymList>
593115 ······​<DisorderType·​id="21394">593203 ······​<DisorderType·​id="21394">
593116 ········​<Name·​lang="nl">Ziekte</​Name>593204 ········​<Name·​lang="nl">Ziekte</​Name>
593174 ····​<Disorder·​id="11329">593262 ····​<Disorder·​id="11329">
593175 ······​<OrphaCode>79303</​OrphaCode>593263 ······​<OrphaCode>79303</​OrphaCode>
593176 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79303</​ExpertLink>593264 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79303</​ExpertLink>
593177 ······​<Name·​lang="nl">Congenitaal​·​galzuursynthesedefect​·​type·​2</​Name>593265 ······​<Name·​lang="nl">Congenitaal​·defect·van·​galzuursynthese·​type·​2</​Name>
593178 ······​<DisorderFlagList·​count="1">593266 ······​<DisorderFlagList·​count="1">
593179 ········​<DisorderFlag·​id="475">593267 ········​<DisorderFlag·​id="475">
593180 ··········​<Value>1</​Value>593268 ··········​<Value>1</​Value>
593183 ······​</​DisorderFlagList>593271 ······​</​DisorderFlagList>
593184 ······​<SynonymList·​count="2">593272 ······​<SynonymList·​count="2">
593185 ········​<Synonym·​lang="nl">BASD2</​Synonym>593273 ········​<Synonym·​lang="nl">BASD2</​Synonym>
593186 ········​<Synonym·​lang="nl">Cholestase,​·met·​delta(4)​-​3-​oxosteroïd·​5-​bèta-​reductasedeficiëntie<​/​Synonym>593274 ········​<Synonym·​lang="nl">Cholestase·met·deficiëntie·van·​delta(4)​-​3-​oxosteroïd·​5-​bèta-​reductase</​Synonym>
593187 ······​</​SynonymList>593275 ······​</​SynonymList>
593188 ······​<DisorderType·​id="21394">593276 ······​<DisorderType·​id="21394">
593189 ········​<Name·​lang="nl">Ziekte</​Name>593277 ········​<Name·​lang="nl">Ziekte</​Name>
593415 ··········​<Label></​Label>593503 ··········​<Label></​Label>
593416 ········​</​DisorderFlag>593504 ········​</​DisorderFlag>
593417 ······​</​DisorderFlagList>593505 ······​</​DisorderFlagList>
593418 ······​<SynonymList·​count="2">593506 ······​<SynonymList·​count="3">
593419 ········​<Synonym·​lang="nl">Alopecia</​Synonym>593507 ········​<Synonym·​lang="nl">Alopecia</​Synonym>
593420 ········​<Synonym·​lang="nl">Haaruitval<​/​Synonym>593508 ········​<Synonym·​lang="nl">Haaruitval<​/​Synonym>
593509 ········​<Synonym·​lang="nl">Kaalheid</​Synonym>
593421 ······​</​SynonymList>593510 ······​</​SynonymList>
593422 ······​<DisorderType·​id="36561">593511 ······​<DisorderType·​id="36561">
593423 ········​<Name·​lang="nl">Category</​Name>593512 ········​<Name·​lang="nl">Category</​Name>
593995 ····​<Disorder·​id="11377">594084 ····​<Disorder·​id="11377">
593996 ······​<OrphaCode>79351</​OrphaCode>594085 ······​<OrphaCode>79351</​OrphaCode>
593997 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79351</​ExpertLink>594086 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=79351</​ExpertLink>
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594056 ············​<Name·​lang="nl">OBSOLEET:​·​3-​Fosfoglyceraatdehydro​genasedeficiëntie</​Name>594145 ············​<Name·​lang="nl">OBSOLEET:​·Deficiëntie·van·​3-​fosfoglyceraatdehydro​genase</​Name>
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594069 ······​<Name·​lang="nl">3-​fosfoserinefosfatased​eficiëntie,​·​infantiele/​juveniele·​vorm</​Name>594158 ······​<Name·​lang="nl">Deficiëntie​·van·3-​fosfoserinefosfatase,​·​infantiele/​juveniele·​vorm</​Name>
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594668 ······​<Name·​lang="nl">Calvariale·donutlaesies·​-​·​botfragiliteit</​Name>594757 ······​<Name·​lang="nl">Donutlaesie​s·van·calvaria·​-​·​botfragiliteit-​syndroom</​Name>
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594676 ········​<Synonym·​lang="nl">Familiale·donutlaesie·​van·​de·schedel</​Synonym>594765 ········​<Synonym·​lang="nl">Donutlaesie​s·​van·schedeldak·-​·botfragiliteit-​syndroom</​Synonym>
594766 ········​<Synonym·​lang="nl">Familiale·​donutlaesies·​van·​schedel</​Synonym>
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594679 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>594769 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
595277 ····​<Disorder·​id="11661">595367 ····​<Disorder·​id="11661">
595278 ······​<OrphaCode>85203</​OrphaCode>595368 ······​<OrphaCode>85203</​OrphaCode>
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595280 ······​<Name·​lang="nl">Acro-​pectoraal·​syndroom</​Name>595370 ······​<Name·​lang="nl">Acropectora​al·​syndroom</​Name>
595281 ······​<DisorderFlagList·​count="1">595371 ······​<DisorderFlagList·​count="1">
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595287 ······​<SynonymList·​count="2">595377 ······​<SynonymList·​count="2">
595288 ········​<Synonym·​lang="nl">ACRP-​syndroom</​Synonym>595378 ········​<Synonym·​lang="nl">ACRP-​syndroom</​Synonym>
595289 ········​<Synonym·​lang="nl">Syndactylie​·​-​·​preaxiale·​polydactylie·​-​·​sternale·misvorming-​syndroom</​Synonym>595379 ········​<Synonym·​lang="nl">Syndactylie​·​-​·​preaxiale·​polydactylie·​-​·misvorming·van·sternum-​syndroom</​Synonym>
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595291 ······​<DisorderType·​id="21401">595381 ······​<DisorderType·​id="21401">
595292 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>595382 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
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597271 ······​<OrphaCode>85321</​OrphaCode>597361 ······​<OrphaCode>85321</​OrphaCode>
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597273 ······​<Name·​lang="nl">Doofheid·​-​·​intellectuele·​achterstand,​·​Martin-​Probst-​type</​Name>597363 ······​<Name·​lang="nl">Doofheid·​-​·​intellectuele·​achterstand-​syndroom,​·​Martin-​Probst-​type</​Name>
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597280 ······​<SynonymList·​count="2">597370 ······​<SynonymList·​count="4">
597281 ········​<Synonym·​lang="nl">Martin-​Probstsyndroom</​Synonym>597371 ········​<Synonym·​lang="nl">Gehoorverli​es·-​·intellectuele·achterstand-​syndroom,​·Martin-​Probst-​type</​Synonym>
597282 ········​<Synonym·​lang="nl">X-​gebonden·doofheid·-​·intellectuele·achterstandsyndroom</​Synonym>597372 ········​<Synonym·​lang="nl">Syndroom·van·Martin-​Probst</​Synonym>
597373 ········​<Synonym·​lang="nl">X-​gebonden·​doofheid·​-​·​intellectuele·​achterstand-​syndroom</​Synonym>
597374 ········​<Synonym·​lang="nl">X-​gebonden·​gehoorverlies·​-​·​intellectuele·​achterstand-​syndroom</​Synonym>
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597284 ······​<DisorderType·​id="21401">597376 ······​<DisorderType·​id="21401">
597285 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>597377 ········​<Name·​lang="nl">Malformatie​syndroom</​Name>
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597328 ······​</​DisorderDisorderAssoc​iationList>597420 ······​</​DisorderDisorderAssoc​iationList>
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597422 ········​<SummaryInformation·​id="129149"·​lang="nl">
597423 ··········​<TextSectionList·​count="1">
597424 ············​<TextSection·​id="168002"·​lang="nl">
597425 ··············​<TextSectionType·​id="16907">
597426 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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597428 ··············​<Contents>Een·​zeldzame·​X-​gebonden·​syndromale·​intellectuele·​achterstand,​·​gekarakteriseerd·​door·​congenitaal·​sensorineuraal·​gehoorverlies,​·​variabele·​gradaties·​van·​intellectuele·​achterstand,​·​kleine·​gestalte,​·​en·​dysmorfe·​gelaatskenmerken·​(zoals·​telecanthus,​·​epicanthusplooien,​·​brede·​neuswortel,​·​hypoplasie·​van·​jukbeenderen,​·​laagstaande·​oren,​·​dentale·​anomalieën,​·​en·​micrognathie)​.​·​Bijkomende·​manifestaties·​die·​werden·​gerapporteerd,​·​zijn·​onder·​meer·​microcefalie,​·​renale·​en·​urogenitale·​afwijkingen,​·​ver·​uit·​elkaar·​staande·​en·​hypoplastische·​tepels,​·​en·​in·​de·​volwassenheid·​optredende·​progressieve·​pancytopenie.​</​Contents>
597429 ············​</​TextSection>
597430 ··········​</​TextSectionList>
597431 ········​</​SummaryInformation>
597330 ······​</​SummaryInformationLis​t>597432 ······​</​SummaryInformationLis​t>
597331 ····​</​Disorder>597433 ····​</​Disorder>
597332 ····​<Disorder·​id="11690">597434 ····​<Disorder·​id="11690">
597634 ······​</​ExternalReferenceList​>597736 ······​</​ExternalReferenceList​>
597635 ······​<DisorderDisorderAsso​ciationList·​count="0">597737 ······​<DisorderDisorderAsso​ciationList·​count="0">
597636 ······​</​DisorderDisorderAssoc​iationList>597738 ······​</​DisorderDisorderAssoc​iationList>
597637 ······​<SummaryInformationLi​st·​count="0">597739 ······​<SummaryInformationLi​st·​count="1">
597740 ········​<SummaryInformation·​id="129153"·​lang="nl">
597741 ··········​<TextSectionList·​count="1">
597742 ············​<TextSection·​id="168006"·​lang="nl">
597743 ··············​<TextSectionType·​id="16907">
597744 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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597746 ··············​<Contents>Een·​zeldzame·​X-​gebonden·​syndromale·​intellectuele·​achterstand,​·​gekarakteriseerd·​door·​algehele·​ontwikkelingsachterst​and·​en·​ernstige·​intellectuele·​achterstand,​·​insulten,​·​en·​recidiverende·​infecties·​van·​onderste·​luchtwegen,​·​en·​resulterend·​in·​voortijdige·​sterfte·​bij·​getroffen·​mannen.​·​Bijkomende·​manifestaties·​die·​werden·​gerapporteerd,​·​zijn·​onder·​meer·​milde·​dysmorfe·​gelaatskenmerken·​(zoals·​epicanthusplooien,​·​hoge·​neusbrug,​·​of·​kleine·​mond)​,​·​gangstoornissen,​·​hoge·​peesreflexen,​·​vertraagde·​botmaturatie,​·​en·​taps·​toelopende·​vingers.​·​Er·​werd·​geen·​duidelijke·​heterozygote·​manifestatie·​gerapporteerd·​bij·​vrouwen.​</​Contents>
597747 ············​</​TextSection>
597748 ··········​</​TextSectionList>
597749 ········​</​SummaryInformation>
597638 ······​</​SummaryInformationLis​t>597750 ······​</​SummaryInformationLis​t>
597639 ····​</​Disorder>597751 ····​</​Disorder>
597640 ····​<Disorder·​id="11698">597752 ····​<Disorder·​id="11698">
599935 ······​</​DisorderFlagList>600047 ······​</​DisorderFlagList>
599936 ······​<SynonymList·​count="3">600048 ······​<SynonymList·​count="3">
599937 ········​<Synonym·​lang="nl">Atrophia·​areata</​Synonym>600049 ········​<Synonym·​lang="nl">Atrophia·​areata</​Synonym>
600050 ········​<Synonym·​lang="nl">Chorioretin​ale·​atrofie·​van·​Sveinsson</​Synonym>
599938 ········​<Synonym·​lang="nl">SCRA</​Synonym>600051 ········​<Synonym·​lang="nl">SCRA</​Synonym>
599939 ········​<Synonym·​lang="nl">Sveinsson·​chorioretinale·​atrofie</​Synonym>
599940 ······​</​SynonymList>600052 ······​</​SynonymList>
599941 ······​<DisorderType·​id="21394">600053 ······​<DisorderType·​id="21394">
599942 ········​<Name·​lang="nl">Ziekte</​Name>600054 ········​<Name·​lang="nl">Ziekte</​Name>
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599990 ······​<OrphaCode>86814</​OrphaCode>600102 ······​<OrphaCode>86814</​OrphaCode>
599991 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86814</​ExpertLink>600103 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86814</​ExpertLink>
599992 ······​<Name·​lang="nl">Goedaardige​·​familiale·​myoclonische·​epilepsie,​·volwassen·vorm</​Name>600104 ······​<Name·​lang="nl">Goedaardige​·adulte·​familiale·​myoclonische·​epilepsie</​Name>
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599999 ······​<SynonymList·​count="7">600111 ······​<SynonymList·​count="8">
600000 ········​<Synonym·​lang="nl">ADCME</​Synonym>600112 ········​<Synonym·​lang="nl">ADCME</​Synonym>
600001 ········​<Synonym·​lang="nl">Autosomaal·​dominante·​corticale·​myoclonus·​en·​epilepsie</​Synonym>600113 ········​<Synonym·​lang="nl">Autosomaal·​dominante·​corticale·​myoclonus·​en·​epilepsie</​Synonym>
600002 ········​<Synonym·​lang="nl">BAFME</​Synonym>600114 ········​<Synonym·​lang="nl">BAFME</​Synonym>
600004 ········​<Synonym·​lang="nl">FCMTE</​Synonym>600116 ········​<Synonym·​lang="nl">FCMTE</​Synonym>
600005 ········​<Synonym·​lang="nl">Familiale·​corticale·​myoclonische·​tremor·​en·​epilepsie</​Synonym>600117 ········​<Synonym·​lang="nl">Familiale·​corticale·​myoclonische·​tremor·​en·​epilepsie</​Synonym>
600006 ········​<Synonym·​lang="nl">Familiale·​volwassen·​myoclonische·​epilepsie</​Synonym>600118 ········​<Synonym·​lang="nl">Familiale·​volwassen·​myoclonische·​epilepsie</​Synonym>
600119 ········​<Synonym·​lang="nl">Goedaardige​·​familiale·​myoclonusepilepsie·​op·​volwassen·​leeftijd</​Synonym>
600007 ······​</​SynonymList>600120 ······​</​SynonymList>
600008 ······​<DisorderType·​id="21394">600121 ······​<DisorderType·​id="21394">
600009 ········​<Name·​lang="nl">Ziekte</​Name>600122 ········​<Name·​lang="nl">Ziekte</​Name>
601795 ····​<Disorder·​id="11757">601908 ····​<Disorder·​id="11757">
601796 ······​<OrphaCode>86852</​OrphaCode>601909 ······​<OrphaCode>86852</​OrphaCode>
601797 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86852</​ExpertLink>601910 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86852</​ExpertLink>
601798 ······​<Name·​lang="nl">B-​cel·prolymfocytische·leukemie</​Name>601911 ······​<Name·​lang="nl">B-​cel-​prolymfocytenleukemie​</​Name>
601799 ······​<DisorderFlagList·​count="1">601912 ······​<DisorderFlagList·​count="1">
601800 ········​<DisorderFlag·​id="475">601913 ········​<DisorderFlag·​id="475">
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602198 ······​</​DisorderDisorderAssoc​iationList>602311 ······​</​DisorderDisorderAssoc​iationList>
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602202 ··········</​TextSectionList>
602203 ··········<TextAuto>
602204 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
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602208 ····​</​Disorder>602314 ····​</​Disorder>
602209 ····​<Disorder·​id="11752">602315 ····​<Disorder·​id="11752">
602294 ····​<Disorder·​id="11766">602400 ····​<Disorder·​id="11766">
602295 ······​<OrphaCode>86872</​OrphaCode>602401 ······​<OrphaCode>86872</​OrphaCode>
602296 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86872</​ExpertLink>602402 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86872</​ExpertLink>
602297 ······​<Name·​lang="nl">T-​cel-​leukemie·met·grote·​granulaire·​lymfocyten</​Name>602403 ······​<Name·​lang="nl">Grootcellig​e·​granulaire·​lymfocytaire·T-​celleukemie</​Name>
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602303 ······​</​DisorderFlagList>602409 ······​</​DisorderFlagList>
602304 ······​<SynonymList·​count="4">602410 ······​<SynonymList·​count="3">
602305 ········​<Synonym·​lang="nl">Proliferati​e·​van·​grote·​granulaire·​lymfocyten</​Synonym>602411 ········​<Synonym·​lang="nl">Proliferati​e·​van·​grote·​granulaire·​lymfocyten</​Synonym>
602306 ········​<Synonym·​lang="nl">T-​LGL</​Synonym>602412 ········​<Synonym·​lang="nl">T-​LGL</​Synonym>
602307 ········​<Synonym·​lang="nl">T-​cel·​LGL·​leukemie</​Synonym>602413 ········​<Synonym·​lang="nl">T-​cel·​LGL·​leukemie</​Synonym>
602308 ········​<Synonym·​lang="nl">T-​cel·​chronische·​lymfocytaire·​leukemie</​Synonym>
602309 ······​</​SynonymList>602414 ······​</​SynonymList>
602310 ······​<DisorderType·​id="21394">602415 ······​<DisorderType·​id="21394">
602311 ········​<Name·​lang="nl">Ziekte</​Name>602416 ········​<Name·​lang="nl">Ziekte</​Name>
602545 ······​</​ExternalReferenceList​>602650 ······​</​ExternalReferenceList​>
602546 ······​<DisorderDisorderAsso​ciationList·​count="0">602651 ······​<DisorderDisorderAsso​ciationList·​count="0">
602547 ······​</​DisorderDisorderAssoc​iationList>602652 ······​</​DisorderDisorderAssoc​iationList>
602548 ······​<SummaryInformationLi​st·​count="0">602653 ······​<SummaryInformationLi​st·​count="1">
602654 ········​<SummaryInformation·​id="128991"·​lang="nl">
602655 ··········​<TextSectionList·​count="1">
602656 ············​<TextSection·​id="167915"·​lang="nl">
602657 ··············​<TextSectionType·​id="16907">
602658 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
602659 ··············​</​TextSectionType>
602660 ··············​<Contents>Een·​zeldzaam·​hematologisch·​neoplasma,​·​gekarakteriseerd·​door·​een·​oorsprong·​in·​voorlopers·​van·​plasmacytoïde·​dendritische·​cellen,​·​met·​frequente·​betrokkenheid·​van·​huid,​·​beenmerg·​en·​lymfeklieren,​·​alsook·​leukemische·​disseminatie.​·​De·​meest·​gangbare·​klinische·​presentatie·​is·​met·​asymptomatische·​solitaire·​of·​meervoudige·​huidlaesies·​(geïsoleerde·​blauw-​rode·​noduli,​·​geïsoleerde·​kneuzing-​achtige·​papels,​·​of·​gedissemineerde·​blauw-​rode·​noduli/​maculae/​papels)​,​·​hoewel·​sommige·​patiënten·​zich·​kunnen·​presenteren·​met·​leukemie.​·​Huidbiopsie·​toont·​een·​diffuus,​·​monomorf·​infiltraat·​van·​middelgrote·​blastcellen·​die·​lijken·​op·​lymfoblasten·​of·​myeloblasten,​·​met·​massale·​betrokkenheid·​van·​de·​dermis.​·​Het·​klinische·​verloop·​is·​agressief,​·​en·​leeftijd·​heeft·​een·​nadelige·​invloed·​op·​de·​prognose.​</​Contents>
602661 ············​</​TextSection>
602662 ··········​</​TextSectionList>
602663 ········​</​SummaryInformation>
602549 ······​</​SummaryInformationLis​t>602664 ······​</​SummaryInformationLis​t>
602550 ····​</​Disorder>602665 ····​</​Disorder>
602551 ····​<Disorder·​id="11765">602666 ····​<Disorder·​id="11765">
602552 ······​<OrphaCode>86871</​OrphaCode>602667 ······​<OrphaCode>86871</​OrphaCode>
602553 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86871</​ExpertLink>602668 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86871</​ExpertLink>
602554 ······​<Name·​lang="nl">T-​cel·prolymfocyten·leukemie</​Name>602669 ······​<Name·​lang="nl">T-​cel-​prolymfocytenleukemie​</​Name>
602555 ······​<DisorderFlagList·​count="1">602670 ······​<DisorderFlagList·​count="1">
602556 ········​<DisorderFlag·​id="475">602671 ········​<DisorderFlag·​id="475">
602557 ··········​<Value>1</​Value>602672 ··········​<Value>1</​Value>
602645 ····​<Disorder·​id="11762">602760 ····​<Disorder·​id="11762">
602646 ······​<OrphaCode>86867</​OrphaCode>602761 ······​<OrphaCode>86867</​OrphaCode>
602647 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86867</​ExpertLink>602762 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86867</​ExpertLink>
602648 ······​<Name·​lang="nl">Nodaal·​marginaal·​zone·​B-​cellymfoom</​Name>602763 ······​<Name·​lang="nl">Nodaal·​marginale·​zone·​B-​cellymfoom</​Name>
602649 ······​<DisorderFlagList·​count="1">602764 ······​<DisorderFlagList·​count="1">
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602651 ··········​<Value>1</​Value>602766 ··········​<Value>1</​Value>
603256 ····​<Disorder·​id="11770">603371 ····​<Disorder·​id="11770">
603257 ······​<OrphaCode>86880</​OrphaCode>603372 ······​<OrphaCode>86880</​OrphaCode>
603258 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86880</​ExpertLink>603373 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=86880</​ExpertLink>
603259 ······​<Name·​lang="nl">Enteropathi​egeassocieerd·​T-​cellymfoom</​Name>603374 ······​<Name·​lang="nl">Enteropathi​e-​geassocieerd·​T-​cellymfoom</​Name>
603260 ······​<DisorderFlagList·​count="1">603375 ······​<DisorderFlagList·​count="1">
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603262 ··········​<Value>1</​Value>603377 ··········​<Value>1</​Value>
604323 ··········​<Label></​Label>604438 ··········​<Label></​Label>
604324 ········​</​DisorderFlag>604439 ········​</​DisorderFlag>
604325 ······​</​DisorderFlagList>604440 ······​</​DisorderFlagList>
604326 ······​<SynonymList·​count="5">604441 ······​<SynonymList·​count="4">
604442 ········​<Synonym·​lang="nl">Keratoderma​·​palmoplantaris·​punctata·​type·​1</​Synonym>
604327 ········​<Synonym·​lang="nl">Keratodermi​a·​palmoplantaris·​papulosa,​·​Buschke-​Fischer-​Brauer-​type</​Synonym>604443 ········​<Synonym·​lang="nl">Keratodermi​a·​palmoplantaris·​papulosa,​·​Buschke-​Fischer-​Brauer-​type</​Synonym>
604328 ········​<Synonym·​lang="nl">PPKP1</​Synonym>604444 ········​<Synonym·​lang="nl">PPKP1</​Synonym>
604329 ········​<Synonym·​lang="nl">Puntvormige​·​hyperkeratose·​van·​handpalm·​of·​voetzool·​type·​1</​Synonym>
604330 ········​<Synonym·​lang="nl">Puntvormige​·​keratodermie·​van·​handpalm·​of·​voetzool·​type·​1</​Synonym>
604331 ········​<Synonym·​lang="nl">Syndroom·​van·​Buschke-​Fischer-​Brauer</​Synonym>604445 ········​<Synonym·​lang="nl">Syndroom·​van·​Buschke-​Fischer-​Brauer</​Synonym>
604332 ······​</​SynonymList>604446 ······​</​SynonymList>
604333 ······​<DisorderType·​id="21394">604447 ······​<DisorderType·​id="21394">
606145 ··············​<TextSectionType·​id="16907">606259 ··············​<TextSectionType·​id="16907">
606146 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>606260 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
606147 ··············​</​TextSectionType>606261 ··············​</​TextSectionType>
606148 ··············​<Contents>Een·​syndroom·gekarakteriseerd·door·​megalencefalie,​·polymicrogyrie,​·en·hydrocefalie·met·variabele·​polydactylie.​·Het·werd·beschreven·bij·zes·niet-​verwante·patiënten.​·Intellectuele·beperking·​of·trage·​ontwikkeling·is·ook·​aanwezig.​·Het·​overervingspatroon·van·dit·syndroom·is·niet·​gekend·aangezien·​alle·gevallen·sporadisch·waren.​</​Contents>606262 ··············​<Contents>Een·zeldzaam·​syndroom·met·een·malformatie·van·centraal·zenuwstelsel·als·belangrijk·kenmerk,​·gekarakteriseerd·door·macrocefalie,​·megalencefalie,​·bilaterale·perisylvische·​polymicrogyrie,​·variabele·gradaties·van·ventriculomegalie/​hydrocefalie,​·ontwikkelingsachterst​and·en·intellectuele·achterstand,​·oromotorische·disfunctie,​·hypotonie,​·insulten,​·en·dysmorfe·gelaatskenmerken·(zoals·boller·voorhoofd,​·laagstaande·oren,​·platte·neusbrug,​·en·hoog·​gewelfd·verhemelte)​.​·Postaxiale·polydactylie·van·een·of·meer·ledematen·komt·ook·vaak·voor.​</​Contents>
606149 ············​</​TextSection>606263 ············​</​TextSection>
606150 ··········​</​TextSectionList>606264 ··········​</​TextSectionList>
606151 ········​</​SummaryInformation>606265 ········​</​SummaryInformation>
608185 ··············​<TextSectionType·​id="16907">608299 ··············​<TextSectionType·​id="16907">
608186 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>608300 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
608187 ··············​</​TextSectionType>608301 ··············​</​TextSectionType>
608188 ··············​<Contents>Een·syndroom·bestaande·uit·​de·​associatie·​van·congenitale·nefronoftisis·die·leidt·tot·​nierfalen,​·en·leverfibrose.​·Het·werd·beschreven·bij·vijf·leden·van·één·familie,​·waarvan·er·twee·stierven·als·gevolg·van·​nierfalen.​·De·associatie·​van·syndroom·van·Boichis·met·tapetoretinale·degeneratie·en·intellectuele·beperking·werd·ook·gerapporteerd·bij·één·familie:​·het·zogenaamde·​syndroom·van·Senior-​Boichis·zou·in·feite·dezelfde·entiteit·kunnen·zijn,​·​en·werd·later·gerapporteerd·​bij·​een·12·jaar·oud·kind.​</​Contents>608302 ··············​<Contents>Een·zeldzame·ciliopathie,​·gekarakteriseerd·door·​de·​associatie·​van·nefronoftise·en·leverfibrose.​·Manifestaties·van·​nier·zijn·onder·meer·chronisch·nierfalen,​·polyurie,​·polydipsie,​·anemie,​·​alsook·verhoogde·echogeniciteit·bij·echografie·van·de·nieren,​·en·interstitiële·fibrose·en·dilatatie·​van·niertubuli·bij·biopsie.​·Betrokkenheid·van·lever·manifesteert·zich·als·hepatosplenomegalie·met·uitgebreide·fibrose,​·destructie·van·galwegen,​·en·cholestase.​·Milde·psychomotorische·achterstand·en·oculaire·symptomen,​·zoals·strabisme,​·nystagmus,​·retinadegeneratie,​·en·anisocorie,​·werden·​bij·sommige·patiënten·gerapporteerd.​</​Contents>
608189 ············​</​TextSection>608303 ············​</​TextSection>
608190 ··········​</​TextSectionList>608304 ··········​</​TextSectionList>
608191 ········​</​SummaryInformation>608305 ········​</​SummaryInformation>
608442 ····​<Disorder·​id="11606">608556 ····​<Disorder·​id="11606">
608443 ······​<OrphaCode>84065</​OrphaCode>608557 ······​<OrphaCode>84065</​OrphaCode>
608444 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=84065</​ExpertLink>608558 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=84065</​ExpertLink>
608445 ······​<Name·​lang="nl">Idiopathisc​he·​malabsorptie·als·gevolg·​van·​galzuursynthesedefect​en</​Name>608559 ······​<Name·​lang="nl">Idiopathisc​he·​malabsorptie·door·defecten·​van·​galzuursynthese</​Name>
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611245 ······​</​DisorderFlagList>611359 ······​</​DisorderFlagList>
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611247 ······​</​SynonymList>611361 ······​</​SynonymList>
611248 ······​<DisorderType·​id="21394">611362 ······​<DisorderType·​id="21415">
611249 ········​<Name·​lang="nl">Ziekte</​Name>611363 ········​<Name·​lang="nl">Morfologisc​he·anomalie</​Name>
611250 ······​</​DisorderType>611364 ······​</​DisorderType>
611251 ······​<DisorderGroup·​id="36547">611365 ······​<DisorderGroup·​id="36547">
611252 ········​<Name·​lang="nl">Aandoening<​/​Name>611366 ········​<Name·​lang="nl">Aandoening<​/​Name>
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612961 ····​</​Disorder>613075 ····​</​Disorder>
613076 ····​<Disorder·​id="30684">
613077 ······​<OrphaCode>610573</​OrphaCode>
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613079 ······​<Name·​lang="nl">CLCN6-​related·​childhood·​onset·​progressive·​neurodegeneration-​peripheral·​neuropathy-​syndrome</​Name>
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613084 ········​</​DisorderFlag>
613085 ······​</​DisorderFlagList>
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613087 ······​</​SynonymList>
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613089 ········​<Name·​lang="nl">Ziekte</​Name>
613090 ······​</​DisorderType>
613091 ······​<DisorderGroup·​id="36547">
613092 ········​<Name·​lang="nl">Aandoening<​/​Name>
613093 ······​</​DisorderGroup>
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613095 ········​<ExternalReference·​id="200356">
613096 ··········​<Source>OMIM</​Source>
613097 ··········​<Reference>619173</​Reference>
613098 ··········​<DisorderMappingRelat​ion·​id="21527">
613099 ············​<Name·​lang="nl">exacte·​overeenkomst·​(de·​termen·​en·​concepten·​zijn·​equivalent)​</​Name>
613100 ··········​</​DisorderMappingRelati​on>
613101 ··········​<DisorderMappingICDRe​lation/​>
613102 ··········​<DisorderMappingValid​ationStatus·​id="21611">
613103 ············​<Name·​lang="nl">Gevalideerd​</​Name>
613104 ··········​</​DisorderMappingValida​tionStatus>
613105 ········​</​ExternalReference>
613106 ······​</​ExternalReferenceList​>
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613110 ······​</​SummaryInformationLis​t>
613111 ····​</​Disorder>
612962 ····​<Disorder·​id="13086">613112 ····​<Disorder·​id="13086">
612963 ······​<OrphaCode>98068</​OrphaCode>613113 ······​<OrphaCode>98068</​OrphaCode>
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613153 ····​</​Disorder>613303 ····​</​Disorder>
613304 ····​<Disorder·​id="30683">
613305 ······​<OrphaCode>610569</​OrphaCode>
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613307 ······​<Name·​lang="nl">KIAA1109-​related·​early·​lethal-​congenital·​brain·​mlaformations-​arthrogryposis-​syndrome</​Name>
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613310 ··········​<Value>1</​Value>
613311 ··········​<Label></​Label>
613312 ········​</​DisorderFlag>
613313 ······​</​DisorderFlagList>
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613315 ······​</​SynonymList>
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613317 ········​<Name·​lang="nl">Ziekte</​Name>
613318 ······​</​DisorderType>
613319 ······​<DisorderGroup·​id="36547">
613320 ········​<Name·​lang="nl">Aandoening<​/​Name>
613321 ······​</​DisorderGroup>
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613323 ········​<ExternalReference·​id="200353">
613324 ··········​<Source>OMIM</​Source>
613325 ··········​<Reference>617822</​Reference>
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613155 ······​<OrphaCode>98064</​OrphaCode>613341 ······​<OrphaCode>98064</​OrphaCode>
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615176 ········​<Name·​lang="nl">Ziekte</​Name>
615177 ······​</​DisorderType>
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615179 ········​<Name·​lang="nl">Aandoening<​/​Name>
615180 ······​</​DisorderGroup>
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615186 ······​</​SummaryInformationLis​t>
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614977 ····​<Disorder·​id="30478">615188 ····​<Disorder·​id="30478">
614978 ······​<OrphaCode>600731</​OrphaCode>615189 ······​<OrphaCode>600731</​OrphaCode>
614979 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=600731</​ExpertLink>615190 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=600731</​ExpertLink>
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617707 ······​</​DisorderDisorderAssoc​iationList>617918 ······​</​DisorderDisorderAssoc​iationList>
617708 ······​<SummaryInformationLi​st·​count="0">617919 ······​<SummaryInformationLi​st·​count="1">
617920 ········​<SummaryInformation·​id="129117"·​lang="nl">
617921 ··········​<TextSectionList·​count="1">
617922 ············​<TextSection·​id="167970"·​lang="nl">
617923 ··············​<TextSectionType·​id="16907">
617924 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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617926 ··············​<Contents>Een·​zeldzaam·​neuro-​endocrien·​neoplasma,​·​gekarakteriseerd·​door·​een·​oorsprong·​in·​pulmonale·​neuro-​endocriene·​cellen·​en·​gaande·​van·​laaggradig·​typisch·​carcinoïd·​en·​intermediair·​atypisch·​carcinoïd·​tot·​hooggradig·​grootcellig·​neuro-​endocrien·​carcinoom·​en·​kleincellig·​carcinoom.​·​Twee·​derde·​van·​de·​tumoren·​zijn·​gesitueerd·​in·​de·​hoofdbronchiën,​·​met·​een·​voorkeur·​voor·​de·​rechterlong,​·​vooral·​in·​de·​middelste·​longkwab.​·​De·​meeste·​patiënten·​met·​centrale·​bronchiale·​tumoren·​presenteren·​zich·​met·​hemoptoë,​·​hoest,​·​recidiverende·​longinfecties,​·​koorts,​·​thoracaal·​ongemak,​·​en·​unilaterale·​piepende·​ademhaling,​·​terwijl·​perifere·​carcinoïden·​meestal·​maar·​toevallig·​ontdekt·​worden.​·​Carcinoïdsyndroom·​en·​syndroom·​van·​Cushing·​zijn·​zeer·​zeldzaam.​·​De·​tumoren·​kunnen·​deel·​uitmaken·​van·​multipele·​endocriene·​neoplasie·​type·​1.​</​Contents>
617927 ············​</​TextSection>
617928 ··········​</​TextSectionList>
617929 ········​</​SummaryInformation>
617709 ······​</​SummaryInformationLis​t>617930 ······​</​SummaryInformationLis​t>
617710 ····​</​Disorder>617931 ····​</​Disorder>
617711 ····​<Disorder·​id="12886">617932 ····​<Disorder·​id="12886">
618151 ··········​<Label></​Label>618372 ··········​<Label></​Label>
618152 ········​</​DisorderFlag>618373 ········​</​DisorderFlag>
618153 ······​</​DisorderFlagList>618374 ······​</​DisorderFlagList>
618154 ······​<SynonymList·​count="3">618375 ······​<SynonymList·​count="2">
618155 ········<Synonym·lang="nl">Neurovascul​air·compressiesyndroom</​Synonym>
618156 ········<Synonym·lang="nl">Schoudergor​delsyndroom</​Synonym>
618157 ········​<Synonym·​lang="nl">TOS</​Synonym>618376 ········​<Synonym·​lang="nl">TOS</​Synonym>
618377 ········​<Synonym·​lang="nl">Thoracic·​outlet-​compressiesyndroom</​Synonym>
618158 ······​</​SynonymList>618378 ······​</​SynonymList>
618159 ······​<DisorderType·​id="21394">618379 ······​<DisorderType·​id="21394">
618160 ········​<Name·​lang="nl">Ziekte</​Name>618380 ········​<Name·​lang="nl">Ziekte</​Name>
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619595 ······​<DisorderDisorderAsso​ciationList·​count="0">619815 ······​<DisorderDisorderAsso​ciationList·​count="0">
619596 ······​</​DisorderDisorderAssoc​iationList>619816 ······​</​DisorderDisorderAssoc​iationList>
619597 ······​<SummaryInformationLi​st·​count="0">619817 ······​<SummaryInformationLi​st·​count="1">
619818 ········​<SummaryInformation·​id="129148"·​lang="nl">
619819 ··········​<TextSectionList·​count="1">
619820 ············​<TextSection·​id="168001"·​lang="nl">
619821 ··············​<TextSectionType·​id="16907">
619822 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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619824 ··············​<Contents>Een·​zeldzame·​goedaardige·​tumor·​van·​nier,​·​gekarakteriseerd·​door·​een·​doorgaans·​unilaterale,​·​solitaire,​·​multiloculaire·​cystische·​massa·​bestaande·​uit·​kleine,​·​niet-​communicerende·​cysten·​met·​platte,​·​cuboïdale·​of·​kopspijker-​achtige·​epitheliale·​bekleding,​·​gescheiden·​door·​fibreuze·​septa·​die·​kunnen·​lijken·​op·​ovarieel·​stroma·​of·​weinig·​cellen·​bevatten.​·​De·​tumor·​wordt·​omringd·​door·​een·​dikke·​fibreuze·​capsule·​en·​bevat·​geen·​solide·​delen·​of·​necrose.​·​Patiënten·​kunnen·​asymptomatisch·​zijn,​·​of·​zich·​presenteren·​met·​een·​palpabele·​abdominale·​massa·​en/​of·​abdominale·​pijn·​of·​flankpijn.​·​De·​leeftijdsverdeling·​is·​bimodaal,​·​met·​een·​typische·​aanvangsleeftijd·​onder·​vijf·​jaar·​of·​tussen·​40·​en·​70·​jaar.​</​Contents>
619825 ············​</​TextSection>
619826 ··········​</​TextSectionList>
619827 ········​</​SummaryInformation>
619598 ······​</​SummaryInformationLis​t>619828 ······​</​SummaryInformationLis​t>
619599 ····​</​Disorder>619829 ····​</​Disorder>
619600 ····​<Disorder·​id="12918">619830 ····​<Disorder·​id="12918">
621249 ······​</​DisorderFlagList>621479 ······​</​DisorderFlagList>
621250 ······​<SynonymList·​count="3">621480 ······​<SynonymList·​count="3">
621251 ········​<Synonym·​lang="nl">Corticotroo​p·​hypofyseadenoom</​Synonym>621481 ········​<Synonym·​lang="nl">Corticotroo​p·​hypofyseadenoom</​Synonym>
621252 ········​<Synonym·​lang="nl">Hypofysair·​corticotroop·​micro-​adenoom</​Synonym>621482 ········​<Synonym·​lang="nl">Hypofysair·​corticotroop·​microadenoom</​Synonym>
621253 ········​<Synonym·​lang="nl">Hypofyseafh​ankelijk·Cushingsyndroom</​Synonym>621483 ········​<Synonym·​lang="nl">Hypofyseafh​ankelijk·syndroom·van·Cushing</​Synonym>
621254 ······​</​SynonymList>621484 ······​</​SynonymList>
621255 ······​<DisorderType·​id="21394">621485 ······​<DisorderType·​id="21394">
621256 ········​<Name·​lang="nl">Ziekte</​Name>621486 ········​<Name·​lang="nl">Ziekte</​Name>
623026 ········​</​SummaryInformation>623256 ········​</​SummaryInformation>
623027 ······​</​SummaryInformationLis​t>623257 ······​</​SummaryInformationLis​t>
623028 ····​</​Disorder>623258 ····​</​Disorder>
623259 ····​<Disorder·​id="30241">
623260 ······​<OrphaCode>600194</​OrphaCode>
623261 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=600194</​ExpertLink>
623262 ······​<Name·​lang="nl">Stollingsst​oornis·​door·​factor·​V·​Atlanta</​Name>
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623265 ··········​<Value>1</​Value>
623266 ··········​<Label></​Label>
623267 ········​</​DisorderFlag>
623268 ······​</​DisorderFlagList>
623269 ······​<SynonymList·​count="0">
623270 ······​</​SynonymList>
623271 ······​<DisorderType·​id="21443">
623272 ········​<Name·​lang="nl">Etiologisch​·​subtype</​Name>
623273 ······​</​DisorderType>
623274 ······​<DisorderGroup·​id="36554">
623275 ········​<Name·​lang="nl">Subtype·​van·​aandoening</​Name>
623276 ······​</​DisorderGroup>
623277 ······​<ExternalReferenceLis​t·​count="0">
623278 ······​</​ExternalReferenceList​>
623279 ······​<DisorderDisorderAsso​ciationList·​count="0">
623280 ······​</​DisorderDisorderAssoc​iationList>
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623282 ······​</​SummaryInformationLis​t>
623283 ····​</​Disorder>
623029 ····​<Disorder·​id="13028">623284 ····​<Disorder·​id="13028">
623030 ······​<OrphaCode>98010</​OrphaCode>623285 ······​<OrphaCode>98010</​OrphaCode>
623031 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=98010</​ExpertLink>623286 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=98010</​ExpertLink>
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625127 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
625128 ··········</​TextAuto>
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625173 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
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625288 ··········<TextAuto>
625289 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
625290 ··········</​TextAuto>
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625293 ····​</​Disorder>625527 ····​</​Disorder>
625294 ····​<Disorder·​id="12665">625528 ····​<Disorder·​id="12665">
625326 ······​</​ExternalReferenceList​>625560 ······​</​ExternalReferenceList​>
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625328 ······​</​DisorderDisorderAssoc​iationList>625562 ······​</​DisorderDisorderAssoc​iationList>
625329 ······​<SummaryInformationLi​st·​count="1">625563 ······​<SummaryInformationLi​st·​count="0">
625330 ········<SummaryInformation·id="-​1"·lang="nl">
625331 ··········<TextSectionList·count="0">
625332 ··········</​TextSectionList>
625333 ··········<TextAuto>
625334 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
625335 ··········</​TextAuto>
625336 ········</​SummaryInformation>
625337 ······​</​SummaryInformationLis​t>625564 ······​</​SummaryInformationLis​t>
625338 ····​</​Disorder>625565 ····​</​Disorder>
625339 ····​<Disorder·​id="12647">625566 ····​<Disorder·​id="12647">
625814 ····​<Disorder·​id="12654">626041 ····​<Disorder·​id="12654">
625815 ······​<OrphaCode>95699</​OrphaCode>626042 ······​<OrphaCode>95699</​OrphaCode>
625816 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=95699</​ExpertLink>626043 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=95699</​ExpertLink>
625817 ······​<Name·​lang="nl">Congenitale​·adrenale·hyperplasie·als·gevolg·​van·​cytochroom·​P450-​oxidoreductasedeficië​ntie</​Name>626044 ······​<Name·​lang="nl">Congenitale​·hyperplasie·van·bijnier·door·deficiëntie·​van·​cytochroom·​P450-​oxidoreductase</​Name>
625818 ······​<DisorderFlagList·​count="1">626045 ······​<DisorderFlagList·​count="1">
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625821 ··········​<Label></​Label>626048 ··········​<Label></​Label>
625822 ········​</​DisorderFlag>626049 ········​</​DisorderFlag>
625823 ······​</​DisorderFlagList>626050 ······​</​DisorderFlagList>
625824 ······​<SynonymList·​count="4">626051 ······​<SynonymList·​count="3">
625825 ········​<Synonym·​lang="nl">Congenitale​·​bijnierhyperplasie·als·gevolg·van·​cytochroom·​P450-​oxidoreductasedeficië​ntie</​Synonym>626052 ········​<Synonym·​lang="nl">Congenitale​·​bijnierhyperplasie·door·​cytochroom·​POR-​deficiëntie</​Synonym>
625826 ········<Synonym·lang="nl">Congenitale​·bijnierhyperplasie·als·gevolg·van·cytochroom·POR-​deficiëntie</​Synonym>
625827 ········​<Synonym·​lang="nl">POR-​deficiëntie</​Synonym>626053 ········​<Synonym·​lang="nl">POR-​deficiëntie</​Synonym>
625828 ········​<Synonym·​lang="nl">PORD</​Synonym>626054 ········​<Synonym·​lang="nl">PORD</​Synonym>
625829 ······​</​SynonymList>626055 ······​</​SynonymList>
626797 ········​<DisorderDisorderAsso​ciation>627023 ········​<DisorderDisorderAsso​ciation>
626798 ··········​<TargetDisorder·​id="12138">627024 ··········​<TargetDisorder·​id="12138">
626799 ············​<OrphaCode>91387</​OrphaCode>627025 ············​<OrphaCode>91387</​OrphaCode>
626800 ············​<Name·​lang="nl">Familiaal·​thoracaal·aorta-​aneurysma</​Name>627026 ············​<Name·​lang="nl">Familiale·dissectie·en·aneurysma·van·thoracale·aorta</​Name>
626801 ··········​</​TargetDisorder>627027 ··········​</​TargetDisorder>
626802 ··········​<RootDisorder·​id="12608"·​cycle="true"/​>627028 ··········​<RootDisorder·​id="12608"·​cycle="true"/​>
626803 ··········​<DisorderDisorderAsso​ciationType·​id="27341">627029 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
626908 ····​<Disorder·​id="12620">627134 ····​<Disorder·​id="12620">
626909 ······​<OrphaCode>95496</​OrphaCode>627135 ······​<OrphaCode>95496</​OrphaCode>
626910 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=95496</​ExpertLink>627136 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=95496</​ExpertLink>
626911 ······​<Name·​lang="nl">Hypofyseste​elonderbrekingsyndroo​m</​Name>627137 ······​<Name·​lang="nl">Syndroom·van·onderbreking·van·hypofysesteel</​Name>
626912 ······​<DisorderFlagList·​count="1">627138 ······​<DisorderFlagList·​count="1">
626913 ········​<DisorderFlag·​id="475">627139 ········​<DisorderFlag·​id="475">
626914 ··········​<Value>1</​Value>627140 ··········​<Value>1</​Value>
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628263 ······​<DisorderDisorderAsso​ciationList·​count="0">628489 ······​<DisorderDisorderAsso​ciationList·​count="0">
628264 ······​</​DisorderDisorderAssoc​iationList>628490 ······​</​DisorderDisorderAssoc​iationList>
628265 ······​<SummaryInformationLi​st·​count="1">628491 ······​<SummaryInformationLi​st·​count="0">
628266 ········<SummaryInformation·id="-​1"·lang="nl">
628267 ··········<TextSectionList·count="0">
628268 ··········</​TextSectionList>
628269 ··········<TextAuto>
628270 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
628271 ··········</​TextAuto>
628272 ········</​SummaryInformation>
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628274 ····​</​Disorder>628493 ····​</​Disorder>
628275 ····​<Disorder·​id="12580">628494 ····​<Disorder·​id="12580">
629691 ····​<Disorder·​id="12544">629910 ····​<Disorder·​id="12544">
629692 ······​<OrphaCode>94063</​OrphaCode>629911 ······​<OrphaCode>94063</​OrphaCode>
629693 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=94063</​ExpertLink>629912 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=94063</​ExpertLink>
629694 ······​<Name·​lang="nl">12q14·microdeletiesyndroom<​/​Name>629913 ······​<Name·​lang="nl">12q14-​microdeletiesyndroom<​/​Name>
629695 ······​<DisorderFlagList·​count="1">629914 ······​<DisorderFlagList·​count="1">
629696 ········​<DisorderFlag·​id="475">629915 ········​<DisorderFlag·​id="475">
629697 ··········​<Value>1</​Value>629916 ··········​<Value>1</​Value>
629702 ········​<Synonym·​lang="nl">Del(12)​(q14)​</​Synonym>629921 ········​<Synonym·​lang="nl">Del(12)​(q14)​</​Synonym>
629703 ········​<Synonym·​lang="nl">Deletie·​12q14</​Synonym>629922 ········​<Synonym·​lang="nl">Deletie·​12q14</​Synonym>
629704 ········​<Synonym·​lang="nl">Monosomie·​12q14</​Synonym>629923 ········​<Synonym·​lang="nl">Monosomie·​12q14</​Synonym>
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631564 ········​<Synonym·​lang="nl">9qSTDS</​Synonym>631783 ········​<Synonym·​lang="nl">9qSTDS</​Synonym>
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638332 ········​<Synonym·​lang="nl">AHA</​Synonym>
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638495 ······​<DisorderGroup·​id="36547">
638496 ········​<Name·​lang="nl">Aandoening<​/​Name>
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638582 ······​<Name·​lang="nl">Verworven·​deficiëntie·​van·​factor·​X</​Name>
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640541 ··············​<Contents>Een·​zeldzame·​congenitale·​malformatie·​van·​ledemaat,​·​gekarakteriseerd·​door·​hypoplastische·​middelste·​falangen·​van·​vingers·​2,​·​3·​en·​5,​·​met·​relatief·​gespaard·​blijven·​van·​vinger·​4,​·​alsook·​hyperfalangie·​die·​meestal·​vingers·​2·​en·​3·​aantast,​·​abnormaal·​kort·​eerste·​metacarpaal·​met·​korte·​duim,​·​en·​ulnaire·​deviatie·​van·​vingers·​2·​en·​3.​·​De·​ernst·​van·​de·​malformatie·​is·​zeer·​variabel.​</​Contents>
640542 ············​</​TextSection>
640543 ··········​</​TextSectionList>
640544 ········​</​SummaryInformation>
640136 ······​</​SummaryInformationLis​t>640545 ······​</​SummaryInformationLis​t>
640137 ····​</​Disorder>640546 ····​</​Disorder>
640138 ····​<Disorder·​id="12309">640547 ····​<Disorder·​id="12309">
643580 ··········​<TargetDisorder·​id="12501"·​cycle="true"/​>643989 ··········​<TargetDisorder·​id="12501"·​cycle="true"/​>
643581 ··········​<RootDisorder·​id="492">643990 ··········​<RootDisorder·​id="492">
643582 ············​<OrphaCode>2005</​OrphaCode>643991 ············​<OrphaCode>2005</​OrphaCode>
643583 ············​<Name·​lang="nl">OBSOLEET:​·​Laryngo-​tracheo-​oesofageale·​spleet·​-​·​pulmonale·​hypoplasie</​Name>643992 ············​<Name·​lang="nl">OBSOLEET:​·​Laryngo-​tracheo-​oesofageale·​spleet·​-​·​pulmonale·​hypoplasie-​syndroom</​Name>
643584 ··········​</​RootDisorder>643993 ··········​</​RootDisorder>
643585 ··········​<DisorderDisorderAsso​ciationType·​id="27341">643994 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
643586 ············​<Name·​lang="nl">Referred·​to</​Name>643995 ············​<Name·​lang="nl">Referred·​to</​Name>
646667 ····​<Disorder·​id="12439">647076 ····​<Disorder·​id="12439">
646668 ······​<OrphaCode>93606</​OrphaCode>647077 ······​<OrphaCode>93606</​OrphaCode>
646669 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=93606</​ExpertLink>647078 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=93606</​ExpertLink>
646670 ······​<Name·​lang="nl">Nefrogeen·​syndroom·​van·ongepaste·​antidiurese</​Name>647079 ······​<Name·​lang="nl">Nefrogeen·​syndroom·​van·inadequate·​antidiurese</​Name>
646671 ······​<DisorderFlagList·​count="1">647080 ······​<DisorderFlagList·​count="1">
646672 ········​<DisorderFlag·​id="475">647081 ········​<DisorderFlag·​id="475">
646673 ··········​<Value>1</​Value>647082 ··········​<Value>1</​Value>
647950 ··········​<Label></​Label>648359 ··········​<Label></​Label>
647951 ········​</​DisorderFlag>648360 ········​</​DisorderFlag>
647952 ······​</​DisorderFlagList>648361 ······​</​DisorderFlagList>
647953 ······​<SynonymList·​count="0">648362 ······​<SynonymList·​count="1">
648363 ········​<Synonym·​lang="nl">Tunnel·​van·​aorta·​naar·​linkerventrikel</​Synonym>
647954 ······​</​SynonymList>648364 ······​</​SynonymList>
647955 ······​<DisorderType·​id="21450">648365 ······​<DisorderType·​id="21450">
647956 ········​<Name·​lang="nl">Klinisch·​subtype</​Name>648366 ········​<Name·​lang="nl">Klinisch·​subtype</​Name>
652068 ····​<Disorder·​id="14212">652478 ····​<Disorder·​id="14212">
652069 ······​<OrphaCode>99429</​OrphaCode>652479 ······​<OrphaCode>99429</​OrphaCode>
652070 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99429</​ExpertLink>652480 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99429</​ExpertLink>
652071 ······​<Name·​lang="nl">Volledige·​androgeenongevoelighe​idssyndroom</​Name>652481 ······​<Name·​lang="nl">Compleet·​androgeenongevoelighe​idssyndroom</​Name>
652072 ······​<DisorderFlagList·​count="1">652482 ······​<DisorderFlagList·​count="1">
652073 ········​<DisorderFlag·​id="475">652483 ········​<DisorderFlag·​id="475">
652074 ··········​<Value>1</​Value>652484 ··········​<Value>1</​Value>
652075 ··········​<Label></​Label>652485 ··········​<Label></​Label>
652076 ········​</​DisorderFlag>652486 ········​</​DisorderFlag>
652077 ······​</​DisorderFlagList>652487 ······​</​DisorderFlagList>
652078 ······​<SynonymList·​count="4">652488 ······​<SynonymList·​count="2">
652079 ········​<Synonym·​lang="nl">CAIS</​Synonym>652489 ········​<Synonym·​lang="nl">CAIS</​Synonym>
652080 ········​<Synonym·​lang="nl">Complete·​androgeeninsensitivei​tssyndroom</​Synonym>652490 ········​<Synonym·​lang="nl">Compleet·​androgeenresistenties​yndroom</​Synonym>
652081 ········<Synonym·lang="nl">Volledige·AOS</​Synonym>
652082 ········<Synonym·lang="nl">Volledige·androgeenresistenties​yndroom</​Synonym>
652083 ······​</​SynonymList>652491 ······​</​SynonymList>
652084 ······​<DisorderType·​id="21394">652492 ······​<DisorderType·​id="21394">
652085 ········​<Name·​lang="nl">Ziekte</​Name>652493 ········​<Name·​lang="nl">Ziekte</​Name>
653387 ····​<Disorder·​id="14274">653795 ····​<Disorder·​id="14274">
653388 ······​<OrphaCode>99701</​OrphaCode>653796 ······​<OrphaCode>99701</​OrphaCode>
653389 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99701</​ExpertLink>653797 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99701</​ExpertLink>
653390 ······​<Name·​lang="nl">Mesiale·​temporaalkwabepilepsi​e·​met·hippocampale·sclerose</​Name>653798 ······​<Name·​lang="nl">Mesiale·​temporaalkwabepilepsi​e·​met·sclerose·van·hippocampus</​Name>
653391 ······​<DisorderFlagList·​count="1">653799 ······​<DisorderFlagList·​count="1">
653392 ········​<DisorderFlag·​id="475">653800 ········​<DisorderFlag·​id="475">
653393 ··········​<Value>1</​Value>653801 ··········​<Value>1</​Value>
660142 ····​<Disorder·​id="13906">660550 ····​<Disorder·​id="13906">
660143 ······​<OrphaCode>98889</​OrphaCode>660551 ······​<OrphaCode>98889</​OrphaCode>
660144 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=98889</​ExpertLink>660552 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=98889</​ExpertLink>
660145 ······​<Name·​lang="nl">Bilaterale·​perisylviaanse·​polymicrogyrie</​Name>660553 ······​<Name·​lang="nl">Bilaterale·​perisylvische·​polymicrogyrie</​Name>
660146 ······​<DisorderFlagList·​count="1">660554 ······​<DisorderFlagList·​count="1">
660147 ········​<DisorderFlag·​id="475">660555 ········​<DisorderFlag·​id="475">
660148 ··········​<Value>1</​Value>660556 ··········​<Value>1</​Value>
664268 ····​<Disorder·​id="13989">664676 ····​<Disorder·​id="13989">
664269 ······​<OrphaCode>98972</​OrphaCode>664677 ······​<OrphaCode>98972</​OrphaCode>
664270 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=98972</​ExpertLink>664678 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=98972</​ExpertLink>
664271 ······​<Name·​lang="nl">"Central·cloudy"·​dystrofie·​van·​François</​Name>664679 ······​<Name·​lang="nl">Centrale·troebele·​dystrofie·​van·​François</​Name>
664272 ······​<DisorderFlagList·​count="1">664680 ······​<DisorderFlagList·​count="1">
664273 ········​<DisorderFlag·​id="475">664681 ········​<DisorderFlag·​id="475">
664274 ··········​<Value>1</​Value>664682 ··········​<Value>1</​Value>
664275 ··········​<Label></​Label>664683 ··········​<Label></​Label>
664276 ········​</​DisorderFlag>664684 ········​</​DisorderFlag>
664277 ······​</​DisorderFlagList>664685 ······​</​DisorderFlagList>
664278 ······​<SynonymList·​count="2">664686 ······​<SynonymList·​count="3">
664687 ········​<Synonym·​lang="nl">'Central·​cloudy·​dystrophy'·​van·​François</​Synonym>
664279 ········​<Synonym·​lang="nl">CCDF</​Synonym>664688 ········​<Synonym·​lang="nl">CCDF</​Synonym>
664280 ········​<Synonym·​lang="nl">Centrale·​troebele·​corneadystrofie·​van·​François</​Synonym>664689 ········​<Synonym·​lang="nl">Centrale·​troebele·​corneadystrofie·​van·​François</​Synonym>
664281 ······​</​SynonymList>664690 ······​</​SynonymList>
672104 ······​</​ExternalReferenceList​>672513 ······​</​ExternalReferenceList​>
672105 ······​<DisorderDisorderAsso​ciationList·​count="0">672514 ······​<DisorderDisorderAsso​ciationList·​count="0">
672106 ······​</​DisorderDisorderAssoc​iationList>672515 ······​</​DisorderDisorderAssoc​iationList>
672107 ······​<SummaryInformationLi​st·​count="1">672516 ······​<SummaryInformationLi​st·​count="0">
672108 ········<SummaryInformation·id="-​1"·lang="nl">
672109 ··········<TextSectionList·count="0">
672110 ··········</​TextSectionList>
672111 ··········<TextAuto>
672112 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
672113 ··········</​TextAuto>
672114 ········</​SummaryInformation>
672115 ······​</​SummaryInformationLis​t>672517 ······​</​SummaryInformationLis​t>
672116 ····​</​Disorder>672518 ····​</​Disorder>
672117 ····​<Disorder·​id="13694">672519 ····​<Disorder·​id="13694">
672612 ······​</​ExternalReferenceList​>673014 ······​</​ExternalReferenceList​>
672613 ······​<DisorderDisorderAsso​ciationList·​count="0">673015 ······​<DisorderDisorderAsso​ciationList·​count="0">
672614 ······​</​DisorderDisorderAssoc​iationList>673016 ······​</​DisorderDisorderAssoc​iationList>
672615 ······​<SummaryInformationLi​st·​count="1">673017 ······​<SummaryInformationLi​st·​count="0">
672616 ········<SummaryInformation·id="-​1"·lang="nl">
672617 ··········<TextSectionList·count="0">
672618 ··········</​TextSectionList>
672619 ··········<TextAuto>
672620 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
672621 ··········</​TextAuto>
672622 ········</​SummaryInformation>
672623 ······​</​SummaryInformationLis​t>673018 ······​</​SummaryInformationLis​t>
672624 ····​</​Disorder>673019 ····​</​Disorder>
672625 ····​<Disorder·​id="13686">673020 ····​<Disorder·​id="13686">
673008 ······​</​ExternalReferenceList​>673403 ······​</​ExternalReferenceList​>
673009 ······​<DisorderDisorderAsso​ciationList·​count="0">673404 ······​<DisorderDisorderAsso​ciationList·​count="0">
673010 ······​</​DisorderDisorderAssoc​iationList>673405 ······​</​DisorderDisorderAssoc​iationList>
673011 ······​<SummaryInformationLi​st·​count="1">673406 ······​<SummaryInformationLi​st·​count="0">
673012 ········<SummaryInformation·id="-​1"·lang="nl">
673013 ··········<TextSectionList·count="0">
673014 ··········</​TextSectionList>
673015 ··········<TextAuto>
673016 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
673017 ··········</​TextAuto>
673018 ········</​SummaryInformation>
673019 ······​</​SummaryInformationLis​t>673407 ······​</​SummaryInformationLis​t>
673020 ····​</​Disorder>673408 ····​</​Disorder>
673021 ····​<Disorder·​id="13675">673409 ····​<Disorder·​id="13675">
675031 ······​</​ExternalReferenceList​>675419 ······​</​ExternalReferenceList​>
675032 ······​<DisorderDisorderAsso​ciationList·​count="0">675420 ······​<DisorderDisorderAsso​ciationList·​count="0">
675033 ······​</​DisorderDisorderAssoc​iationList>675421 ······​</​DisorderDisorderAssoc​iationList>
675034 ······​<SummaryInformationLi​st·​count="1">675422 ······​<SummaryInformationLi​st·​count="0">
675035 ········<SummaryInformation·id="-​1"·lang="nl">
675036 ··········<TextSectionList·count="0">
675037 ··········</​TextSectionList>
675038 ··········<TextAuto>
675039 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
675040 ··········</​TextAuto>
675041 ········</​SummaryInformation>
675042 ······​</​SummaryInformationLis​t>675423 ······​</​SummaryInformationLis​t>
675043 ····​</​Disorder>675424 ····​</​Disorder>
675044 ····​<Disorder·​id="29044">675425 ····​<Disorder·​id="29044">
683294 ······​</​ExternalReferenceList​>683675 ······​</​ExternalReferenceList​>
683295 ······​<DisorderDisorderAsso​ciationList·​count="0">683676 ······​<DisorderDisorderAsso​ciationList·​count="0">
683296 ······​</​DisorderDisorderAssoc​iationList>683677 ······​</​DisorderDisorderAssoc​iationList>
683297 ······​<SummaryInformationLi​st·​count="0">683678 ······​<SummaryInformationLi​st·​count="1">
683679 ········​<SummaryInformation·​id="129136"·​lang="nl">
683680 ··········​<TextSectionList·​count="1">
683681 ············​<TextSection·​id="167989"·​lang="nl">
683682 ··············​<TextSectionType·​id="16907">
683683 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
683684 ··············​</​TextSectionType>
683685 ··············​<Contents>Een·​zeldzame,​·​genetische·​aandoening·​van·​cerebrale·​kleine·​bloedvaten,​·​gekarakteriseerd·​door·​in·​de·​volwassenheid·​optredende·​primaire·​microangiopathie·​met·​ernstige·​atherosclerose·​van·​arteriolen·​en·​secundaire·​leuko-​encefalopathie.​·​Patiënten·​presenteren·​zich·​mogelijk·​met·​onder·​meer·​migraine,​·​transiënte·​ischemische·​aanvallen,​·​beroerte·​met·​centrale·​faciale·​paralyse,​·​cognitieve·​disfunctie·​met·​concentratiestoornis,​·​dementie,​·​depressie,​·​bewegingsstoornis,​·​vertigo,​·​dysfagie,​·​dysartrie,​·​siccasyndroom,​·​verstoorde·​REM-​slaap,​·​en·​therapieresistente·​hypertensie.​·​MRI·​van·​de·​hersenen·​toont·​doorgaans·​een·​leuko-​encefalopathie·​die·​disproportioneel·​ernstig·​en·​uitgebreid·​is·​in·​vergelijking·​met·​de·​klinische·​ziekte.​</​Contents>
683686 ············​</​TextSection>
683687 ··········​</​TextSectionList>
683688 ········​</​SummaryInformation>
683298 ······​</​SummaryInformationLis​t>683689 ······​</​SummaryInformationLis​t>
683299 ····​</​Disorder>683690 ····​</​Disorder>
683300 ····​<Disorder·​id="13438">683691 ····​<Disorder·​id="13438">
684592 ····​<Disorder·​id="13392">684983 ····​<Disorder·​id="13392">
684593 ······​<OrphaCode>98375</​OrphaCode>684984 ······​<OrphaCode>98375</​OrphaCode>
684594 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=98375</​ExpertLink>684985 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=98375</​ExpertLink>
684595 ······​<Name·​lang="nl">Auto-​immune·​hemolytische·​anemie</​Name>684986 ······​<Name·​lang="nl">Auto-​immuun·​hemolytische·​anemie</​Name>
684596 ······​<DisorderFlagList·​count="1">684987 ······​<DisorderFlagList·​count="1">
684597 ········​<DisorderFlag·​id="475">684988 ········​<DisorderFlag·​id="475">
684598 ··········​<Value>1</​Value>684989 ··········​<Value>1</​Value>
685223 ··········​</​DisorderDisorderAssoc​iationType>685614 ··········​</​DisorderDisorderAssoc​iationType>
685224 ········​</​DisorderDisorderAssoc​iation>685615 ········​</​DisorderDisorderAssoc​iation>
685225 ······​</​DisorderDisorderAssoc​iationList>685616 ······​</​DisorderDisorderAssoc​iationList>
685226 ······​<SummaryInformationLi​st·​count="1">685617 ······​<SummaryInformationLi​st·​count="0">
685227 ········<SummaryInformation·id="-​1"·lang="nl">
685228 ··········<TextSectionList·count="0">
685229 ··········</​TextSectionList>
685230 ··········<TextAuto>
685231 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
685232 ··········</​TextAuto>
685233 ········</​SummaryInformation>
685234 ······​</​SummaryInformationLis​t>685618 ······​</​SummaryInformationLis​t>
685235 ····​</​Disorder>685619 ····​</​Disorder>
685236 ····​<Disorder·​id="13503">685620 ····​<Disorder·​id="13503">
685320 ······​</​ExternalReferenceList​>685704 ······​</​ExternalReferenceList​>
685321 ······​<DisorderDisorderAsso​ciationList·​count="0">685705 ······​<DisorderDisorderAsso​ciationList·​count="0">
685322 ······​</​DisorderDisorderAssoc​iationList>685706 ······​</​DisorderDisorderAssoc​iationList>
685323 ······​<SummaryInformationLi​st·​count="0">685707 ······​<SummaryInformationLi​st·​count="1">
685708 ········​<SummaryInformation·​id="129138"·​lang="nl">
685709 ··········​<TextSectionList·​count="1">
685710 ············​<TextSection·​id="167991"·​lang="nl">
685711 ··············​<TextSectionType·​id="16907">
685712 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
685713 ··············​</​TextSectionType>
685714 ··············​<Contents>Een·​zeldzaam·​subtype·​van·​brachydactylie·​type·​B,​·​gekarakteriseerd·​door·​hypoplasie·​of·​aplasie·​van·​de·​distale·​falangen·​van·​vingers/​tenen·​2-​5·​met·​of·​zonder·​nageldysplasie,​·​geassocieerd·​met·​fusie·​van·​de·​middelste·​en·​distale·​falangen,​·​brede·​of·​bifide·​duim,​·​en·​soms·​distaal·​en·​proximaal·​symfalangisme·​of·​syndactylie.​·​De·​voeten·​worden·​minder·​ernstig·​getroffen·​dan·​de·​handen.​</​Contents>
685715 ············​</​TextSection>
685716 ··········​</​TextSectionList>
685717 ········​</​SummaryInformation>
685324 ······​</​SummaryInformationLis​t>685718 ······​</​SummaryInformationLis​t>
685325 ····​</​Disorder>685719 ····​</​Disorder>
685326 ····​<Disorder·​id="28736">685720 ····​<Disorder·​id="28736">
685466 ······​</​ExternalReferenceList​>685860 ······​</​ExternalReferenceList​>
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685468 ······​</​DisorderDisorderAssoc​iationList>685862 ······​</​DisorderDisorderAssoc​iationList>
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685470 ········<SummaryInformation·id="-​1"·lang="nl">
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685475 ··········</​TextAuto>
685476 ········</​SummaryInformation>
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685478 ····​</​Disorder>685865 ····​</​Disorder>
685479 ····​<Disorder·​id="13445">685866 ····​<Disorder·​id="13445">
685568 ······​</​ExternalReferenceList​>685955 ······​</​ExternalReferenceList​>
685569 ······​<DisorderDisorderAsso​ciationList·​count="0">685956 ······​<DisorderDisorderAsso​ciationList·​count="0">
685570 ······​</​DisorderDisorderAssoc​iationList>685957 ······​</​DisorderDisorderAssoc​iationList>
685571 ······​<SummaryInformationLi​st·​count="0">685958 ······​<SummaryInformationLi​st·​count="1">
685959 ········​<SummaryInformation·​id="128982"·​lang="nl">
685960 ··········​<TextSectionList·​count="1">
685961 ············​<TextSection·​id="167906"·​lang="nl">
685962 ··············​<TextSectionType·​id="16907">
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685965 ··············​<Contents>Een·​zeldzame,​·​genetische·​respiratoire·​aandoening,​·​gekarakteriseerd·​door·​infantiele·​aanvang·​van·​pulmonale·​alveolaire·​proteïnose·​met·​hypogammaglobulinemie​.​·​Patiënten·​hebben·​een·​normale·​ademhalingsfunctie·​bij·​de·​geboorte,​·​maar·​ontwikkelen·​vervolgens·​recidiverende,​·​voornamelijk·​virale,​·​infecties·​en·​progressief·​respiratoir·​falen,​·​vaak·​met·​dood·​in·​de·​zuigelingentijd·​of·​vroege·​kindertijd·​tot·​gevolg.​·​Bijkomende·​kenmerken·​die·​werden·​gerapporteerd,​·​zijn·​onder·​meer·​leukocytose·​en·​splenomegalie.​</​Contents>
685966 ············​</​TextSection>
685967 ··········​</​TextSectionList>
685968 ········​</​SummaryInformation>
685572 ······​</​SummaryInformationLis​t>685969 ······​</​SummaryInformationLis​t>
685573 ····​</​Disorder>685970 ····​</​Disorder>
685574 ····​<Disorder·​id="13451">685971 ····​<Disorder·​id="13451">
686784 ······​</​ExternalReferenceList​>687181 ······​</​ExternalReferenceList​>
686785 ······​<DisorderDisorderAsso​ciationList·​count="0">687182 ······​<DisorderDisorderAsso​ciationList·​count="0">
686786 ······​</​DisorderDisorderAssoc​iationList>687183 ······​</​DisorderDisorderAssoc​iationList>
686787 ······​<SummaryInformationLi​st·​count="0">687184 ······​<SummaryInformationLi​st·​count="1">
687185 ········​<SummaryInformation·​id="129147"·​lang="nl">
687186 ··········​<TextSectionList·​count="1">
687187 ············​<TextSection·​id="168000"·​lang="nl">
687188 ··············​<TextSectionType·​id="16907">
687189 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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687191 ··············​<Contents>Een·​zeldzame·​bacteriële·​infectieuze·​aandoening,​·​gekarakteriseerd·​door·​infectie·​van·​een·​natieve·​of·​prothetische·​hartklep,​·​het·​endocardiale·​oppervlak,​·​of·​een·​geïmplanteerd·​cardiaal·​hulpmiddel.​·​De·​voornaamste·​causale·​agentia·​zijn·​Gram-​positieve·​bacteriën,​·​doorgaans·​van·​de·​geslachten·​&lt;​i&gt;​Staphylococcus&lt;​/​i&gt;​·​en·​&lt;​i&gt;​Streptococcus&lt;​/​i&gt;​.​·​Verschijnselen·​en·​symptomen·​zijn·​onder·​meer·​hoge·​koorts·​of·​langdurige·​subfebriele·​toestand,​·​overmatige·​transpiratie,​·​malaise,​·​asthenie,​·​artralgie,​·​myalgie,​·​gewichtsverlies,​·​hoofdpijn,​·​misselijkheid,​·​dyspneu,​·​hoest,​·​hartgeruis,​·​en·​petechiën·​van·​huid.​·​De·​meest·​gangbare·​complicaties·​zijn·​embolie·​in·​verschillende·​organen·​en·​ischemische·​beroerte,​·​sepsis,​·​hartfalen,​·​en·​nierfalen.​</​Contents>
687192 ············​</​TextSection>
687193 ··········​</​TextSectionList>
687194 ········​</​SummaryInformation>
686788 ······​</​SummaryInformationLis​t>687195 ······​</​SummaryInformationLis​t>
686789 ····​</​Disorder>687196 ····​</​Disorder>
686790 ····​<Disorder·​id="13511">687197 ····​<Disorder·​id="13511">
687038 ······​</​ExternalReferenceList​>687445 ······​</​ExternalReferenceList​>
687039 ······​<DisorderDisorderAsso​ciationList·​count="0">687446 ······​<DisorderDisorderAsso​ciationList·​count="0">
687040 ······​</​DisorderDisorderAssoc​iationList>687447 ······​</​DisorderDisorderAssoc​iationList>
687041 ······​<SummaryInformationLi​st·​count="0">687448 ······​<SummaryInformationLi​st·​count="1">
687449 ········​<SummaryInformation·​id="129127"·​lang="nl">
687450 ··········​<TextSectionList·​count="1">
687451 ············​<TextSection·​id="167980"·​lang="nl">
687452 ··············​<TextSectionType·​id="16907">
687453 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
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687455 ··············​<Contents>Een·​zeldzame·​aandoening·​door·​intoxicatie,​·​gekarakteriseerd·​door·​acute·​aanvang·​van·​potentieel·​levensbedreigende·​ziekte·​na·​inname,​·​inhalatie·​of·​injectie·​van·​ricine,​·​een·​lectine·​dat·​aanwezig·​is·​in·​zaden·​van·​&lt;​i&gt;​Ricinus·​communis&lt;​/​i&gt;​,​·​de·​wonderboom.​·​De·​klinische·​presentatie·​hangt·​af·​van·​de·​route·​van·​toediening,​·​waarbij·​inhalatie·​de·​meest·​toxische·​route·​is,​·​gevolgd·​door·​orale·​inname.​·​Presenterende·​verschijnselen·​en·​symptomen·​zijn·​onder·​meer·​misselijkheid,​·​braken,​·​diarree,​·​hematemese,​·​en·​melena·​(na·​inname)​,​·​hoest,​·​piepende·​ademhaling,​·​dyspneu,​·​pijnlijke·​keel,​·​en·​congestie·​(na·​inhalatie)​,​·​en·​erytheem,​·​induratie,​·​blaarvorming,​·​capillair-​leksyndroom,​·​en·​gelokaliseerde·​necrose·​(na·​injectie)​.​·​De·​aandoening·​kan·​evolueren·​naar·​insulten,​·​shock,​·​orgaanfalen,​·​longoedeem,​·​en·​respiratoir·​falen.​</​Contents>
687456 ············​</​TextSection>
687457 ··········​</​TextSectionList>
687458 ········​</​SummaryInformation>
687042 ······​</​SummaryInformationLis​t>687459 ······​</​SummaryInformationLis​t>
687043 ····​</​Disorder>687460 ····​</​Disorder>
687044 ····​<Disorder·​id="28675">687461 ····​<Disorder·​id="28675">
687123 ····​<Disorder·​id="28673">687540 ····​<Disorder·​id="28673">
687124 ······​<OrphaCode>570422</​OrphaCode>687541 ······​<OrphaCode>570422</​OrphaCode>
687125 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=570422</​ExpertLink>687542 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=570422</​ExpertLink>
687126 ······​<Name·​lang="nl">Galactosemu​tarotase-​deficiëntie</​Name>687543 ······​<Name·​lang="nl">Deficiëntie​·van·galactosemutarotase</​Name>
687127 ······​<DisorderFlagList·​count="1">687544 ······​<DisorderFlagList·​count="1">
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687169 ······​<DisorderDisorderAsso​ciationList·​count="0">687586 ······​<DisorderDisorderAsso​ciationList·​count="0">
687170 ······​</​DisorderDisorderAssoc​iationList>687587 ······​</​DisorderDisorderAssoc​iationList>
687171 ······​<SummaryInformationLi​st·​count="0">687588 ······​<SummaryInformationLi​st·​count="1">
687589 ········​<SummaryInformation·​id="129155"·​lang="nl">
687590 ··········​<TextSectionList·​count="1">
687591 ············​<TextSection·​id="168008"·​lang="nl">
687592 ··············​<TextSectionType·​id="16907">
687593 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
687594 ··············​</​TextSectionType>
687595 ··············​<Contents>Een·​zeldzame·​stoornis·​van·​galactosemetabolisme,​·​gekarakteriseerd·​door·​persisterende·​congenitale·​galactosemie·​door·​deficiëntie·​van·​het·​enzym·​galactose-​mutarotase.​·​Patiënten·​vertonen·​mogelijk·​bilateraal·​cataract,​·​terwijl·​gastro-​intestinale·​symptomen·​of·​ernstige·​leverdisfunctie·​afwezig·​zijn.​·​Het·​natuurlijke·​ziekteverloop·​is·​niet·​gekend.​·​Ernstige·​complicaties,​·​zoals·​neurologische·​symptomen,​·​werden·​nog·​niet·​gerapporteerd·​bij·​vroege·​behandeling·​met·​een·​galactosearm·​dieet.​</​Contents>
687596 ············​</​TextSection>
687597 ··········​</​TextSectionList>
687598 ········​</​SummaryInformation>
687172 ······​</​SummaryInformationLis​t>687599 ······​</​SummaryInformationLis​t>
687173 ····​</​Disorder>687600 ····​</​Disorder>
687174 ····​<Disorder·​id="28672">687601 ····​<Disorder·​id="28672">
691891 ······​</​ExternalReferenceList​>692318 ······​</​ExternalReferenceList​>
691892 ······​<DisorderDisorderAsso​ciationList·​count="0">692319 ······​<DisorderDisorderAsso​ciationList·​count="0">
691893 ······​</​DisorderDisorderAssoc​iationList>692320 ······​</​DisorderDisorderAssoc​iationList>
691894 ······​<SummaryInformationLi​st·​count="1">692321 ······​<SummaryInformationLi​st·​count="0">
691895 ········<SummaryInformation·id="-​1"·lang="nl">
691896 ··········<TextSectionList·count="0">
691897 ··········</​TextSectionList>
691898 ··········<TextAuto>
691899 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
691900 ··········</​TextAuto>
691901 ········</​SummaryInformation>
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691903 ····​</​Disorder>692323 ····​</​Disorder>
691904 ····​<Disorder·​id="14950">692324 ····​<Disorder·​id="14950">
691938 ······​</​ExternalReferenceList​>692358 ······​</​ExternalReferenceList​>
691939 ······​<DisorderDisorderAsso​ciationList·​count="0">692359 ······​<DisorderDisorderAsso​ciationList·​count="0">
691940 ······​</​DisorderDisorderAssoc​iationList>692360 ······​</​DisorderDisorderAssoc​iationList>
691941 ······​<SummaryInformationLi​st·​count="1">692361 ······​<SummaryInformationLi​st·​count="0">
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691943 ··········<TextSectionList·count="0">
691944 ··········</​TextSectionList>
691945 ··········<TextAuto>
691946 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
691947 ··········</​TextAuto>
691948 ········</​SummaryInformation>
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691950 ····​</​Disorder>692363 ····​</​Disorder>
691951 ····​<Disorder·​id="14957">692364 ····​<Disorder·​id="14957">
697567 ····​<Disorder·​id="14734">697980 ····​<Disorder·​id="14734">
697568 ······​<OrphaCode>101023</​OrphaCode>697981 ······​<OrphaCode>101023</​OrphaCode>
697569 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=101023</​ExpertLink>697982 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=101023</​ExpertLink>
697570 ······​<Name·​lang="nl">Gespleten·hard·verhemelte</​Name>697983 ······​<Name·​lang="nl">Schisis·van·palatum·durum</​Name>
697571 ······​<DisorderFlagList·​count="1">697984 ······​<DisorderFlagList·​count="1">
697572 ········​<DisorderFlag·​id="475">697985 ········​<DisorderFlag·​id="475">
697573 ··········​<Value>1</​Value>697986 ··········​<Value>1</​Value>
697574 ··········​<Label></​Label>697987 ··········​<Label></​Label>
697575 ········​</​DisorderFlag>697988 ········​</​DisorderFlag>
697576 ······​</​DisorderFlagList>697989 ······​</​DisorderFlagList>
697577 ······​<SynonymList·​count="0">697990 ······​<SynonymList·​count="1">
697991 ········​<Synonym·​lang="nl">Gespleten·​hard·​verhemelte</​Synonym>
697578 ······​</​SynonymList>697992 ······​</​SynonymList>
697579 ······​<DisorderType·​id="21415">697993 ······​<DisorderType·​id="21415">
697580 ········​<Name·​lang="nl">Morfologisc​he·​anomalie</​Name>697994 ········​<Name·​lang="nl">Morfologisc​he·​anomalie</​Name>
700620 ······​</​ExternalReferenceList​>701034 ······​</​ExternalReferenceList​>
700621 ······​<DisorderDisorderAsso​ciationList·​count="0">701035 ······​<DisorderDisorderAsso​ciationList·​count="0">
700622 ······​</​DisorderDisorderAssoc​iationList>701036 ······​</​DisorderDisorderAssoc​iationList>
700623 ······​<SummaryInformationLi​st·​count="1">701037 ······​<SummaryInformationLi​st·​count="0">
700624 ········<SummaryInformation·id="-​1"·lang="nl">
700625 ··········<TextSectionList·count="0">
700626 ··········</​TextSectionList>
700627 ··········<TextAuto>
700628 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
700629 ··········</​TextAuto>
700630 ········</​SummaryInformation>
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700632 ····​</​Disorder>701039 ····​</​Disorder>
700633 ····​<Disorder·​id="14663">701040 ····​<Disorder·​id="14663">
700662 ··········​</​DisorderDisorderAssoc​iationType>701069 ··········​</​DisorderDisorderAssoc​iationType>
700663 ········​</​DisorderDisorderAssoc​iation>701070 ········​</​DisorderDisorderAssoc​iation>
700664 ······​</​DisorderDisorderAssoc​iationList>701071 ······​</​DisorderDisorderAssoc​iationList>
700665 ······​<SummaryInformationLi​st·​count="1">701072 ······​<SummaryInformationLi​st·​count="0">
700666 ········<SummaryInformation·id="-​1"·lang="nl">
700667 ··········<TextSectionList·count="0">
700668 ··········</​TextSectionList>
700669 ··········<TextAuto>
700670 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
700671 ··········</​TextAuto>
700672 ········</​SummaryInformation>
700673 ······​</​SummaryInformationLis​t>701073 ······​</​SummaryInformationLis​t>
700674 ····​</​Disorder>701074 ····​</​Disorder>
700675 ····​<Disorder·​id="14662">701075 ····​<Disorder·​id="14662">
701390 ··········​<Label></​Label>701790 ··········​<Label></​Label>
701391 ········​</​DisorderFlag>701791 ········​</​DisorderFlag>
701392 ······​</​DisorderFlagList>701792 ······​</​DisorderFlagList>
701393 ······​<SynonymList·​count="1">701793 ······​<SynonymList·​count="2">
701394 ········​<Synonym·​lang="nl">BSI</​Synonym>701794 ········​<Synonym·​lang="nl">BSI</​Synonym>
701795 ········​<Synonym·​lang="nl">Bathing·​suit·​ichthyosis</​Synonym>
701395 ······​</​SynonymList>701796 ······​</​SynonymList>
701396 ······​<DisorderType·​id="21394">701797 ······​<DisorderType·​id="21394">
701397 ········​<Name·​lang="nl">Ziekte</​Name>701798 ········​<Name·​lang="nl">Ziekte</​Name>
702531 ······​</​ExternalReferenceList​>702932 ······​</​ExternalReferenceList​>
702532 ······​<DisorderDisorderAsso​ciationList·​count="0">702933 ······​<DisorderDisorderAsso​ciationList·​count="0">
702533 ······​</​DisorderDisorderAssoc​iationList>702934 ······​</​DisorderDisorderAssoc​iationList>
702534 ······​<SummaryInformationLi​st·​count="1">702935 ······​<SummaryInformationLi​st·​count="0">
702535 ········<SummaryInformation·id="-​1"·lang="nl">
702536 ··········<TextSectionList·count="0">
702537 ··········</​TextSectionList>
702538 ··········<TextAuto>
702539 ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.​·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,​·kan·u·de·classificatie·raadplegen.​</​Info>
702540 ··········</​TextAuto>
702541 ········</​SummaryInformation>
702542 ······​</​SummaryInformationLis​t>702936 ······​</​SummaryInformationLis​t>
702543 ····​</​Disorder>702937 ····​</​Disorder>
702544 ····​<Disorder·​id="14649">702938 ····​<Disorder·​id="14649">
702631 ····​<Disorder·​id="14655">703025 ····​<Disorder·​id="14655">
702632 ······​<OrphaCode>100083</​OrphaCode>703026 ······​<OrphaCode>100083</​OrphaCode>
702633 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=100083</​ExpertLink>703027 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=100083</​ExpertLink>
702634 ······​<Name·​lang="nl">Neuro-​endocriene·​tumor·​van·de·​larynx</​Name>703028 ······​<Name·​lang="nl">Neuro-​endocriene·​tumor·​van·​larynx</​Name>
702635 ······​<DisorderFlagList·​count="1">703029 ······​<DisorderFlagList·​count="1">
702636 ········​<DisorderFlag·​id="475">703030 ········​<DisorderFlag·​id="475">
702637 ··········​<Value>1</​Value>703031 ··········​<Value>1</​Value>
702640 ······​</​DisorderFlagList>703034 ······​</​DisorderFlagList>
702641 ······​<SynonymList·​count="2">703035 ······​<SynonymList·​count="2">
702642 ········​<Synonym·​lang="nl">Laryngeale·​neuro-​endocriene·​tumor</​Synonym>703036 ········​<Synonym·​lang="nl">Laryngeale·​neuro-​endocriene·​tumor</​Synonym>
702643 ········​<Synonym·​lang="nl">Neuro-​endocriene·​tumor·​van·het·​strottenhoofd</​Synonym>703037 ········​<Synonym·​lang="nl">Neuro-​endocriene·​tumor·​van·​strottenhoofd</​Synonym>
702644 ······​</​SynonymList>703038 ······​</​SynonymList>
702645 ······​<DisorderType·​id="21394">703039 ······​<DisorderType·​id="21394">
702646 ········​<Name·​lang="nl">Ziekte</​Name>703040 ········​<Name·​lang="nl">Ziekte</​Name>
702678 ······​</​ExternalReferenceList​>703072 ······​</​ExternalReferenceList​>
702679 ······​<DisorderDisorderAsso​ciationList·​count="0">703073 ······​<DisorderDisorderAsso​ciationList·​count="0">
702680 ······​</​DisorderDisorderAssoc​iationList>703074 ······​</​DisorderDisorderAssoc​iationList>
702681 ······​<SummaryInformationLi​st·​count="0">703075 ······​<SummaryInformationLi​st·​count="1">
703076 ········​<SummaryInformation·​id="129129"·​lang="nl">
703077 ··········​<TextSectionList·​count="1">
703078 ············​<TextSection·​id="167982"·​lang="nl">
703079 ··············​<TextSectionType·​id="16907">
703080 ················​<Name·​lang="nl">Definitie·​ziekte</​Name>
703081 ··············​</​TextSectionType>
703082 ··············​<Contents>Een·​zeldzame·​tumor·​van·​hoofd·​en·​hals,​·​gekarakteriseerd·​door·​een·​epitheliaal·​neoplasma·​met·​bewijs·​van·​neuro-​endocriene·​differentiatie,​·​meestal·​gesitueerd·​in·​de·​supraglottische·​larynx.​·​De·​tumor·​kan·​goed,​·​matig·​of·​slecht·​gedifferentieerd·​zijn,​·​en·​deze·​laatste·​groep·​wordt·​verder·​onderverdeeld·​in·​kleincellige·​en·​grootcellige·​neuro-​endocriene·​carcinomen.​·​Er·​is·​een·​sterke·​associatie·​met·​tabaksgebruik.​·​Patiënten·​presenteren·​zich·​met·​heesheid,​·​dysfagie,​·​pijnlijke·​keel,​·​obstructie·​van·​luchtwegen,​·​hemoptoë,​·​en·​in·​zeldzame·​gevallen·​een·​paraneoplastisch·​syndroom·​als·​gevolg·​van·​aberrante·​productie·​van·​hormoon.​·​Slecht·​gedifferentieerde·​tumoren·​zijn·​zeer·​agressief·​met·​hoge·​percentages·​van·​regionale·​metastase·​en·​metastase·​op·​afstand.​</​Contents>
703083 ············​</​TextSection>
703084 ··········​</​TextSectionList>
703085 ········​</​SummaryInformation>
702682 ······​</​SummaryInformationLis​t>703086 ······​</​SummaryInformationLis​t>
702683 ····​</​Disorder>703087 ····​</​Disorder>
702684 ····​<Disorder·​id="14652">703088 ····​<Disorder·​id="14652">
703139 ······​<SynonymList·​count="4">703543 ······​<SynonymList·​count="4">
703140 ········​<Synonym·​lang="nl">Alfa-​HCD</​Synonym>703544 ········​<Synonym·​lang="nl">Alfa-​HCD</​Synonym>
703141 ········​<Synonym·​lang="nl">IPSID</​Synonym>703545 ········​<Synonym·​lang="nl">IPSID</​Synonym>
703142 ········​<Synonym·​lang="nl">Immunoproli​feratieve·​ziekte·​van·de·​dunne·​darm</​Synonym>703546 ········​<Synonym·​lang="nl">Immunoproli​feratieve·​ziekte·​van·​dunne·​darm</​Synonym>
703143 ········​<Synonym·​lang="nl">Mediterraan​·​lymfoom</​Synonym>703547 ········​<Synonym·​lang="nl">Mediterraan​·​lymfoom</​Synonym>
703144 ······​</​SynonymList>703548 ······​</​SynonymList>
703145 ······​<DisorderType·​id="21450">703549 ······​<DisorderType·​id="21450">
710294 ····​<Disorder·​id="14473">710698 ····​<Disorder·​id="14473">
710295 ······​<OrphaCode>99900</​OrphaCode>710699 ······​<OrphaCode>99900</​OrphaCode>
710296 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99900</​ExpertLink>710700 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99900</​ExpertLink>
710297 ······​<Name·​lang="nl">Lange·keten·acyl-​CoA-​dehydrogenasedeficiën​tie</​Name>710701 ······​<Name·​lang="nl">Deficiëntie​·van·lange-​keten-​acyl-​CoA-​dehydrogenase</​Name>
710298 ······​<DisorderFlagList·​count="3">710702 ······​<DisorderFlagList·​count="3">
710299 ········​<DisorderFlag·​id="495">710703 ········​<DisorderFlag·​id="495">
710300 ··········​<Value>8192</​Value>710704 ··········​<Value>8192</​Value>
710557 ······​</​DisorderFlagList>710961 ······​</​DisorderFlagList>
710558 ······​<SynonymList·​count="3">710962 ······​<SynonymList·​count="3">
710559 ········​<Synonym·​lang="nl">Adrenaal·​syndroom·​van·​Cushing</​Synonym>710963 ········​<Synonym·​lang="nl">Adrenaal·​syndroom·​van·​Cushing</​Synonym>
710560 ········​<Synonym·​lang="nl">Adrenocorti​cotropisch·​hormoon-​onafhankelijke·​syndroom·​van·​Cushing</​Synonym>710964 ········​<Synonym·​lang="nl">Adrenocorti​cotroop·​hormoon-​onafhankelijke·​syndroom·​van·​Cushing</​Synonym>
710561 ········​<Synonym·​lang="nl">Corticotrop​ine-​onafhankelijk·​syndroom·​van·​Cushing</​Synonym>710965 ········​<Synonym·​lang="nl">Corticotrop​ine-​onafhankelijk·​syndroom·​van·​Cushing</​Synonym>
710562 ······​</​SynonymList>710966 ······​</​SynonymList>
710563 ······​<DisorderType·​id="21436">710967 ······​<DisorderType·​id="21436">
710586 ··········​<TargetDisorder·​id="14466"·​cycle="true"/​>710990 ··········​<TargetDisorder·​id="14466"·​cycle="true"/​>
710587 ··········​<RootDisorder·​id="18373">710991 ··········​<RootDisorder·​id="18373">
710588 ············​<OrphaCode>189424</​OrphaCode>710992 ············​<OrphaCode>189424</​OrphaCode>
710589 ············​<Name·​lang="nl">OBSOLEET:​·​ACTH-​onafhankelijk·Cushingsyndroom·​door·​bilaterale·​adrenocorticale·​hyperplasie</​Name>710993 ············​<Name·​lang="nl">OBSOLEET:​·​ACTH-​onafhankelijk·syndroom·van·Cushing·​door·​bilaterale·​adrenocorticale·​hyperplasie</​Name>
710590 ··········​</​RootDisorder>710994 ··········​</​RootDisorder>
710591 ··········​<DisorderDisorderAsso​ciationType·​id="27341">710995 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
710592 ············​<Name·​lang="nl">Referred·​to</​Name>710996 ············​<Name·​lang="nl">Referred·​to</​Name>
710618 ······​</​DisorderFlagList>711022 ······​</​DisorderFlagList>
710619 ······​<SynonymList·​count="3">711023 ······​<SynonymList·​count="3">
710620 ········​<Synonym·​lang="nl">ACTH-​afhankelijk·​CS</​Synonym>711024 ········​<Synonym·​lang="nl">ACTH-​afhankelijk·​CS</​Synonym>
710621 ········​<Synonym·​lang="nl">Adrenocorti​cotropisch·​hormoon-​afhankelijke·​syndroom·​van·​Cushing</​Synonym>711025 ········​<Synonym·​lang="nl">Adrenocorti​cotroop·​hormoon-​afhankelijke·​syndroom·​van·​Cushing</​Synonym>
710622 ········​<Synonym·​lang="nl">Corticotrop​ineafhankelijk·​syndroom·​vanCushing</​Synonym>711026 ········​<Synonym·​lang="nl">Corticotrop​ineafhankelijk·​syndroom·​vanCushing</​Synonym>
710623 ······​</​SynonymList>711027 ······​</​SynonymList>
710624 ······​<DisorderType·​id="21436">711028 ······​<DisorderType·​id="21436">
711233 ····​<Disorder·​id="14462">711637 ····​<Disorder·​id="14462">
711234 ······​<OrphaCode>99889</​OrphaCode>711638 ······​<OrphaCode>99889</​OrphaCode>
711235 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99889</​ExpertLink>711639 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99889</​ExpertLink>
711236 ······​<Name·​lang="nl">Cushingsynd​room·​door·​ectopische·​ACTH-​secretie</​Name>711640 ······​<Name·​lang="nl">Syndroom·van·Cushing·​door·​ectopische·​ACTH-​secretie</​Name>
711237 ······​<DisorderFlagList·​count="1">711641 ······​<DisorderFlagList·​count="1">
711238 ········​<DisorderFlag·​id="475">711642 ········​<DisorderFlag·​id="475">
711239 ··········​<Value>1</​Value>711643 ··········​<Value>1</​Value>
711241 ········​</​DisorderFlag>711645 ········​</​DisorderFlag>
711242 ······​</​DisorderFlagList>711646 ······​</​DisorderFlagList>
711243 ······​<SynonymList·​count="5">711647 ······​<SynonymList·​count="5">
711244 ········​<Synonym·​lang="nl">Adrenocorti​cotropisch·​hormoon-​secretiesyndroom</​Synonym>711648 ········​<Synonym·​lang="nl">Adrenocorti​cotroop·​hormoon-​secretiesyndroom</​Synonym>
711245 ········​<Synonym·​lang="nl">Ectopisch·Cushingsyndroom</​Synonym>711649 ········​<Synonym·​lang="nl">Ectopisch·syndroom·van·Cushing</​Synonym>
711246 ········​<Synonym·​lang="nl">Ectopische·​ACTH-​secreterende·​tumor</​Synonym>711650 ········​<Synonym·​lang="nl">Ectopische·​ACTH-​secreterende·​tumor</​Synonym>
711247 ········​<Synonym·​lang="nl">Occulte·​ectopische·​ACTH-​secretie</​Synonym>711651 ········​<Synonym·​lang="nl">Occulte·​ectopische·​ACTH-​secretie</​Synonym>
711248 ········​<Synonym·​lang="nl">Paraneoplas​tisch·Cushingsyndroom</​Synonym>711652 ········​<Synonym·​lang="nl">Paraneoplas​tisch·syndroom·van·Cushing</​Synonym>
711249 ······​</​SynonymList>711653 ······​</​SynonymList>
711250 ······​<DisorderType·​id="21394">711654 ······​<DisorderType·​id="21394">
711251 ········​<Name·​lang="nl">Ziekte</​Name>711655 ········​<Name·​lang="nl">Ziekte</​Name>
712556 ····​<Disorder·​id="14416">712960 ····​<Disorder·​id="14416">
712557 ······​<OrphaCode>99843</​OrphaCode>712961 ······​<OrphaCode>99843</​OrphaCode>
712558 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99843</​ExpertLink>712962 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99843</​ExpertLink>
712559 ······​<Name·​lang="nl">Leukocytadh​esiedeficiëntie·​type·​II</​Name>712963 ······​<Name·​lang="nl">Deficiëntie​·van·leukocytenadhesie·​type·​II</​Name>
712560 ······​<DisorderFlagList·​count="1">712964 ······​<DisorderFlagList·​count="1">
712561 ········​<DisorderFlag·​id="475">712965 ········​<DisorderFlag·​id="475">
712562 ··········​<Value>1</​Value>712966 ··········​<Value>1</​Value>
712635 ····​<Disorder·​id="14417">713039 ····​<Disorder·​id="14417">
712636 ······​<OrphaCode>99844</​OrphaCode>713040 ······​<OrphaCode>99844</​OrphaCode>
712637 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99844</​ExpertLink>713041 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99844</​ExpertLink>
712638 ······​<Name·​lang="nl">Leukocytadh​esiedeficiëntie·​type·​III</​Name>713042 ······​<Name·​lang="nl">Deficiëntie​·van·leukocytenadhesie·​type·​III</​Name>
712639 ······​<DisorderFlagList·​count="1">713043 ······​<DisorderFlagList·​count="1">
712640 ········​<DisorderFlag·​id="475">713044 ········​<DisorderFlag·​id="475">
712641 ··········​<Value>1</​Value>713045 ··········​<Value>1</​Value>
713538 ····​<Disorder·​id="14415">713942 ····​<Disorder·​id="14415">
713539 ······​<OrphaCode>99842</​OrphaCode>713943 ······​<OrphaCode>99842</​OrphaCode>
713540 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99842</​ExpertLink>713944 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99842</​ExpertLink>
713541 ······​<Name·​lang="nl">Leukocytadh​esiedeficiëntie·​type·​I</​Name>713945 ······​<Name·​lang="nl">Deficiëntie​·van·leukocytenadhesie·​type·​I</​Name>
713542 ······​<DisorderFlagList·​count="1">713946 ······​<DisorderFlagList·​count="1">
713543 ········​<DisorderFlag·​id="475">713947 ········​<DisorderFlag·​id="475">
713544 ··········​<Value>1</​Value>713948 ··········​<Value>1</​Value>
713774 ····​<Disorder·​id="14390">714178 ····​<Disorder·​id="14390">
713775 ······​<OrphaCode>99817</​OrphaCode>714179 ······​<OrphaCode>99817</​OrphaCode>
713776 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99817</​ExpertLink>714180 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99817</​ExpertLink>
713777 ······​<Name·​lang="nl">Niet-​polyposis·​Turcotsyndroom</​Name>714181 ······​<Name·​lang="nl">Syndroom·van·​Turcot·zonder·polyposis</​Name>
713778 ······​<DisorderFlagList·​count="3">714182 ······​<DisorderFlagList·​count="3">
713779 ········​<DisorderFlag·​id="495">714183 ········​<DisorderFlag·​id="495">
713780 ··········​<Value>8192</​Value>714184 ··········​<Value>8192</​Value>
713789 ··········​<Label></​Label>714193 ··········​<Label></​Label>
713790 ········​</​DisorderFlag>714194 ········​</​DisorderFlag>
713791 ······​</​DisorderFlagList>714195 ······​</​DisorderFlagList>
713792 ······​<SynonymList·​count="0">714196 ······​<SynonymList·​count="1">
714197 ········​<Synonym·​lang="nl">Non-​polyposis·​syndroom·​van·​Turcot</​Synonym>
713793 ······​</​SynonymList>714198 ······​</​SynonymList>
713794 ······​<DisorderType·​id="21450">714199 ······​<DisorderType·​id="21450">
713795 ········​<Name·​lang="nl">Klinisch·​subtype</​Name>714200 ········​<Name·​lang="nl">Klinisch·​subtype</​Name>
714660 ····​<Disorder·​id="14379">715065 ····​<Disorder·​id="14379">
714661 ······​<OrphaCode>99806</​OrphaCode>715066 ······​<OrphaCode>99806</​OrphaCode>
714662 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99806</​ExpertLink>715067 ······​<ExpertLink·​lang="nl">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=nl&amp;​Expert=99806</​ExpertLink>
714663 ······​<Name·​lang="nl">Oculo-​oto-​dentaal·​syndroom</​Name>715068 ······​<Name·​lang="nl">Oculo-​otodentaal·​syndroom</​Name>
714664 ······​<DisorderFlagList·​count="1">715069 ······​<DisorderFlagList·​count="1">
714665 ········​<DisorderFlag·​id="475">715070 ········​<DisorderFlag·​id="475">
714666 ··········​<Value>1</​Value>715071 ··········​<Value>1</​Value>